Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | Q1_24_MOI, Q1_24_NHS_review |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | missense |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Skewed X-inactivation |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Paediatric disorders - additional genes | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | gene-checked |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | nucleotide-repeat-expansion |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Other | nucleotide-repeat-expansion |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Paediatric disorders - additional genes | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Other | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Monogenic hearing loss | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | mosaicism |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | mosaicism |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | mosaicism |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | 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) | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | 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/A | N/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/A | N/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/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric disorders - additional genes | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | gene-checked, de novo |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | 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/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
Green | Limb disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
Green | Skeletal dysplasia | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | nucleotide-repeat-expansion |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | new-gene-name |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | watchlist_moi |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Skeletal dysplasia | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/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/A | N/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/A | 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/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | cnv |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | cnv |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name, gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | watchlist_moi |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | 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/A | N/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/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Other | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/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/A | 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/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Monogenic hearing loss | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Other | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/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/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Other | N/A |
Green | Skeletal dysplasia | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | de novo |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | founder-effect |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | founder-effect |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Clefting | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | nucleotide-repeat-expansion |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | 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/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | Other | nucleotide-repeat-expansion |
Green | Early onset or syndromic epilepsy STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric disorders - additional genes | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | Skewed X-inactivation, new-gene-name, gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | 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/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | gene-checked |
Green | DDG2P | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | loss-of-function (truncating variants and curated list of variants) | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q1_24_MOI, Q1_24_NHS_review |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | non-coding-known-pathogenic, deletions |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | microduplication |
Green | Renal ciliopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Skewed X-inactivation |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial, Skewed X-inactivation |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Likely inborn error of metabolism STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | DDG2P STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Monogenic hearing loss | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | watchlist_moi |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | dominant-negative |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | pharmacogenetics |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked, locus-type-rna-micro |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/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/A | N/A |
Green | Clefting | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/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/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/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/A | 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/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Monogenic hearing loss | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | 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/A | N/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/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | missense |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Clefting | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/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 phenotype | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | watchlist_moi |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Monogenic hearing loss | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | 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/A | new-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/A | new-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/A | new-gene-name |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/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/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Clefting | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Other | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Limb disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | mosaicism |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/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/A | 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/A | mosaicism |
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/A | N/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/A | N/A |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Clefting | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | 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/A | N/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) | Other | 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/A | STR |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Monogenic hearing loss | BIALLELIC, autosomal or pseudoautosomal | N/A | to_be_confirmed_NHSE |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric disorders - additional genes | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Paediatric disorders - additional genes | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Clefting | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | de novo |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/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/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | ngs-false-positive-region |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | DDG2P | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | Other | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion |
Green | Likely inborn error of metabolism STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | DDG2P | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |