Paediatric disorders (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R27
This panel contains these 13 panels:
  • DDG2P
  • Intellectual disability
  • Early onset or syndromic epilepsy
  • Likely inborn error of metabolism
  • Skeletal dysplasia
  • Monogenic hearing loss
  • Paediatric disorders - additional genes
  • Clefting
  • Ophthalmological ciliopathies
  • Neurological ciliopathies
  • Renal ciliopathies
  • Limb disorders
  • Skeletal ciliopathies
Signed off date: 7 Aug 2024
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
2829 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ1_24_MOI, Q1_24_NHS_review
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthergene-checked
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anucleotide-repeat-expansion
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthernucleotide-repeat-expansion
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Monogenic hearing loss
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric disorders - additional genes
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked, de novo
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Limb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anucleotide-repeat-expansion
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthernew-gene-name
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Acnv
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Acnv
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name, gene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherfounder-effect
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthernew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anucleotide-repeat-expansion
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOthernucleotide-repeat-expansion
Green
Early onset or syndromic epilepsy
STR
BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation, new-gene-name, gene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)loss-of-function (truncating variants and curated list of variants)N/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI, Q1_24_NHS_review
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, deletions
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicroduplication
Green
Renal ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial, Skewed X-inactivation
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Likely inborn error of metabolism
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
DDG2P
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypedominant-negative
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Apharmacogenetics
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked, locus-type-rna-micro
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Loss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Anew-gene-name
Green
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Anew-gene-name
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Anew-gene-name
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Amosaicism
Green
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Othernucleotide-repeat-expansion
Green
Intellectual disability
STR
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASTR
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/Ato_be_confirmed_NHSE
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Angs-false-positive-region
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
Likely inborn error of metabolism
STR
BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Afor-review, to_be_confirmed_NHSE
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ2_24_demote_amber, Q2_24_NHS_review
Green
Skeletal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ophthalmological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Neurological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AAutism Spectrum Disorder
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/ASTR, watchlist_moi
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, gene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemosaicism, somatic
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypewatchlist_moi
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Ade novo
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthernew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthernew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypenew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthernew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypenew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthernew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypemissense
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anucleotide-repeat-expansion
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AQ1_24_MOI
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name, watchlist
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypemosaicism
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Acnv
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
5p15 terminal (Cri du chat syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q24 recurrent region (A-D) (includes SIN3A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
11p13 (WAGR syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
16p13.3 region (includes CREBBP) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
16p13.3 region (includes CREBBP) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
2p15p16.1 region (includes BCL11A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p13.11 recurrent region (includes MYH11) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q21.3 recurrent region (includes KANSL1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Intellectual disability
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Intellectual disability
8p23.1 recurrent region (includes GATA4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q11.2 recurrent region (includes NF1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q11.2 recurrent region (includes NF1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xq28 recurrent region (includes GDI1) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
3q29 recurrent region (includes DLG1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xp11.23 region (includes MAOA and MAOB) Loss
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
2q11.2 recurrent region (includes ARID5A, TMEM127) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q25.2 recurrent region (LCR B-C, proximal) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xp11.22 region (includes HUWE1) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
SOX9 upstream enhancer region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xq28 region (includes MECP2) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
Xq28 region (includes MECP2) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
3q24 Region (includes ZIC1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
7p22.1 region (includes ACTB) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xq25 region (includes STAG2) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
Xq25 region (includes STAG2) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
Xq25 region (includes STAG2) Loss
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense, watchlist_moi
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)OtherN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AQ1_24_MOI
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, locus-type-rna-long-non-coding
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthergene-checked
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked, new-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Monogenic hearing loss
MITOCHONDRIALN/Alocus-type-rna-ribosomal, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-ribosomal
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
DDG2P
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Monogenic hearing loss
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, missense, somatic
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthernew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Amissense
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AAutism Spectrum Disorder
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Neurological ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Ophthalmological ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Renal ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Paediatric disorders - additional genes
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Amosaicism, x-linked-over-dominance, somatic
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Loss-of-function variants DO NOT cause this phenotypeN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AAutism Spectrum Disorder
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Apromoter, non-coding-known-pathogenic
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, promoter
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Amissense
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Amissense
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemosaicism, somatic
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, somatic
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AQ2_24_demote_red, Q2_24_expert_review
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Adisputed, Q1_24_demote_amber, Q1_24_expert_review
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Monogenic hearing loss
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AQ3_23_MOI
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amicrodeletion
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicrodeletion
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Amissense
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypesomatic, mosaicism, gene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Amissense
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-long-non-coding
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-long-non-coding
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-small-nuclear
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-small-nuclear
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherlocus-type-rna-small-nuclear
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, locus-type-rna-small-nuclear
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi, new-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthergene-checked
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthergene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherde novo
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/APseudoautosomal region 1
Green
Limb disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/APseudoautosomal region 1
Green
DDG2P
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/APseudoautosomal region 1
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amultifactorial, gene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked, structural-variant
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Atreatable
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ2_24_NHS_review, Q2_24_MOI, Q2_24_expert_review
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthersomatic, mosaicism
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthermosaicism
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Afor-review, to_be_confirmed_NHSE
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ2_24_demote_amber, Q2_24_NHS_review
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Ay-chromosome
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicrodeletion
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Neurological ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions, structural-variant
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherde novo
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Alocus-type-rna-long-non-coding
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Monogenic hearing loss
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked, de novo
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Apolygenic
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthergene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthergene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Ade novo
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypefounder-effect
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense, gene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense, gene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked, de novo
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthergene-checked
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism, curated-variant-list
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Neurological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Skeletal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemosaicism, missense