Paediatric disorders (Version: )

Relevant disorders: Acutely unwell children with a likely monogenic disorder, Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R14, R27
This panel contains these 11 panels:
  • DDG2P
  • Intellectual disability
  • Inborn errors of metabolism
  • Skeletal dysplasia
  • Paediatric disorders - additional genes
  • Clefting
  • Renal ciliopathies
  • Ophthalmological ciliopathies
  • Neurological ciliopathies
  • Limb disorders
  • Skeletal ciliopathies
Signed off date: 4 Mar 2020
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
2067 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric disorders - additional genes
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthernucleotide-repeat-expansion
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
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 pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
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
Inborn errors 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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors 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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/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
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Inborn errors 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
Inborn errors 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Awatchlist
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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Intellectual disability
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
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
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
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
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
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors 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
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anucleotide-repeat-expansion
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors 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
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
Limb disorders
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, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
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 unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
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
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
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
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
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
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
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
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
Intellectual disability
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
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Awatchlist
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
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
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
Skeletal dysplasia
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
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
Inborn errors 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
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
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
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Clefting
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
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BOTH monoallelic and 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 unknownOtherwatchlist
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors 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)N/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors 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
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/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/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/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
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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
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
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
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)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
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
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological 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
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
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
Skeletal 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
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
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
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
DDG2P
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
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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors 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
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
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and 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, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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/Awatchlist
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
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 unknownN/Awatchlist
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
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
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anucleotide-repeat-expansion
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal 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
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
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/Awatchlist
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOthernucleotide-repeat-expansion
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
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
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors 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
Inborn errors 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
Inborn errors 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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Inborn errors 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 pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOthernew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
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
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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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)loss-of-function (truncating variants and curated list of variants)N/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
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/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
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
Renal ciliopathies
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/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
Inborn errors 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
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, deletions
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicroduplication
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
DDG2P
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, NOT imprintedN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
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/Agene-therapy-trial
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Inborn errors of metabolism
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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 pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypedominant-negative
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Adeletions
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Apharmacogenetics
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors 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
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
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
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Loss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors 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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
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
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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/Awatchlist
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
Skeletal dysplasia
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
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
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors 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
Inborn errors 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
Inborn errors 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 ciliopathies
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
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 pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
Inborn errors of metabolism
BOTH monoallelic and 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
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
Clefting
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 dysplasia
BIALLELIC, autosomal or pseudoautosomalN/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
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
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
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
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
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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Skeletal dysplasia
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
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
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/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
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and 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
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
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors 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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
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
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
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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)Othercurrently-ngs-unreportable, nucleotide-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/Acurrently-ngs-unreportable, STR
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
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
Clefting
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
STR
BIALLELIC, autosomal or pseudoautosomalN/ASTR
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors 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
Inborn errors 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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
DDG2P
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
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
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Paediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Awatchlist
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Neurological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Ophthalmological ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
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
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Limb disorders
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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Limb disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
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
Inborn errors 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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
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
Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
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 pseudoautosomalLoss-of-function variants DO NOT cause this phenotypemissense
Green
Inborn errors 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
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, 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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors 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
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anucleotide-repeat-expansion
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors 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
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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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 femalesOtherN/A
Green
Inborn errors 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
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Clefting
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
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypemosaicism
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
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
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
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
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherwatchlist
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
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
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Clefting
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
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Acnv
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist
Green
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
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 femalesOtherN/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
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
5p15 terminal (Cri du chat syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb disorders
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q24 recurrent region (A-D) (includes SIN3A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
11p13 (WAGR syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
16p13.3 region (includes CREBBP) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p13.3 region (includes CREBBP) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
2p15p16.1 region (includes BCL11A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p13.11 recurrent region (includes MYH11) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q21.3 recurrent region (includes KANSL1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
8p23.1 recurrent region (includes GATA4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q11.2 recurrent region (includes NF1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q11.2 recurrent region (includes NF1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Renal ciliopathies
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xq28 recurrent region (includes GDI1) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Inborn errors of metabolism
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
3q29 recurrent region (includes DLG1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xp11.23 region (includes MAOA and MAOB) Loss
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
15q25.2 recurrent region (LCR B-C, proximal) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xp11.22 region (includes HUWE1) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Awatchlist
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
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, 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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)OtherN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
DDG2P
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
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/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
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
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
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Clefting
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Clefting
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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
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
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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
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
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors 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
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors 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
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DDG2P
BIALLELIC, autosomal or pseudoautosomal