Paediatric disorders (Version: )

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