Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | Paediatric or syndromic cardiomyopathy | 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 | BOTH monoallelic and 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 | 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 | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | treatable |
Green | Likely inborn error of metabolism | 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 | Likely inborn error of metabolism | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Hypertrophic cardiomyopathy | 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 (but BIALLELIC mutations cause a more SEVERE disease form), 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | Other | missense |
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 | 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 | 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 | 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, imprinted status unknown | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | 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, biallelic mutations in females | N/A | new-gene-name |
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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | 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 | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | 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 | 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 | 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 | 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 | 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 | gene-checked |
Green | Likely inborn error of metabolism | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Short QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | 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 | Long QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | 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 | Early onset or syndromic epilepsy | 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, NOT imprinted | Other | 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 | Long QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Catecholaminergic polymorphic VT | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Long QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Catecholaminergic polymorphic VT | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Catecholaminergic polymorphic VT | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Long QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | 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 | Catecholaminergic polymorphic VT | 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 | 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 | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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, 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, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | 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 | 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 | 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 | 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, 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | 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 | 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 | 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 | 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 | Likely inborn error of metabolism | 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 | 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 | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion |
Green | Early onset or syndromic epilepsy STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
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 | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | 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 | treatable |
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 | 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 | 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 | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | 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 | Early onset or syndromic epilepsy | 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 | 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 | Progressive cardiac conduction disease | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | 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 | Likely inborn error of metabolism | 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 | 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 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | 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 |
Green | Paediatric or syndromic cardiomyopathy | 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 |
Green | Likely inborn error of metabolism STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | watchlist_moi |
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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | 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 | 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 | 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 | 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 | 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 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked, locus-type-rna-micro |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Likely inborn error of metabolism | 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 | 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 | 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 | 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 | 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 | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | 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 | 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 | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Dilated and arrhythmogenic cardiomyopathy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Progressive cardiac conduction disease | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | Likely inborn error of metabolism | 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, imprinted status unknown | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | Likely inborn error of metabolism | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Hypertrophic cardiomyopathy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | Arrhythmogenic right ventricular cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | 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 | Likely inborn error of metabolism | 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | 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, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | 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 | 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 | 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 | 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 | 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 | 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 | new-gene-name |
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 | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | new-gene-name |
Green | Likely inborn error of metabolism | 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Progressive cardiac conduction disease | 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 | Hypertrophic cardiomyopathy | 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 | 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 | 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 | 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) | 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 | STR, watchlist_moi |
Green | Likely inborn error of metabolism | 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, NOT imprinted | 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 | 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 | 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 | 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 | mosaicism, somatic |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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, 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 | 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 | founder-effect |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
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 | 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 | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
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 | 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 | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | 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 | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Progressive cardiac conduction disease | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | 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 | 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 | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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, 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 16p13.11 recurrent region (includes MYH11) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 8p23.1 recurrent region (includes GATA4) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | watchlist |
Green | Early onset or syndromic epilepsy 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 1p36 terminal region (includes GABRD) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism 2p21 region (includes PREPL and SLC3A1) Loss region | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 1q43q44 terminal region (includes AKT3) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy Xp11.22p11.23 recurrent region (includes SHROOM4) Gain region | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Early onset or syndromic epilepsy 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy 16p12.2 recurrent region (distal)(includes OTOA) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy Xq28 region (includes MECP2) Gain region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Early onset or syndromic epilepsy Xq25 region (includes STAG2) Gain region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/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 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | non-coding-known-pathogenic |
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 | 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 | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | 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 | 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 | Other | missense, watchlist_moi |
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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | Long QT syndrome | 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 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Long QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Short QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | 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 | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Short QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Long QT syndrome | 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 | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Short QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Long QT syndrome | 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 | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
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, 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 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | 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 | Progressive cardiac conduction disease | 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 | Paediatric or syndromic cardiomyopathy | 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 | Hypertrophic cardiomyopathy | 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 | Dilated and arrhythmogenic cardiomyopathy | 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 | 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 | 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 | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | Likely inborn error of metabolism | 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 |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Progressive cardiac conduction disease | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and 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 | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | 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 | 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 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Likely inborn error of metabolism | BOTH monoallelic and 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 | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | 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 | 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 | 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 | Skewed X-inactivation |
Green | Early onset or syndromic epilepsy | 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 | 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 | 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 | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q1_24_MOI |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-ribosomal |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
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 | 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 | Likely inborn error of metabolism | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | watchlist_moi |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | watchlist_moi |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Hypertrophic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | gene-checked |
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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | Likely inborn error of metabolism | 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 | 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 | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | Q2_24_MOI, Q2_24_NHS_review |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Progressive cardiac conduction disease | 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 | Paediatric or syndromic cardiomyopathy | 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 | Likely inborn error of metabolism | 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 | 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 | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | 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 | 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 | Likely inborn error of metabolism | 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 | 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 | 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 | 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 | 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 | 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 | 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 | gene-checked |
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 | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | 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 | 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 | Paediatric or syndromic cardiomyopathy | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | 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, 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 | 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 | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Loss-of-function variants DO NOT cause this phenotype | 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 | 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 | founder-effect |
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 | 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 | 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 | Likely inborn error of metabolism | BOTH monoallelic and 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 | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | 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 | 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 | 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 | 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 | Skewed X-inactivation |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Skewed X-inactivation |
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 | 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 | non-coding-known-pathogenic, promoter |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | promoter, non-coding-known-pathogenic |
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 | 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 | 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 | 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 | 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 | missense |
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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | 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 | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi |
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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | Q2_24_demote_red, Q2_24_expert_review, Q2_24_NHS_review |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | founder-effect |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
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 | 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 | 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 | 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 | 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 | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | gene-checked |
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 | 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 | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | disputed, Q1_24_demote_amber, Q1_24_expert_review |
Green | Progressive cardiac conduction disease | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | Early onset or syndromic epilepsy | 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 | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | 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 | Likely inborn error of metabolism | 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 | 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 | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
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 | Paediatric or syndromic cardiomyopathy | 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 | Loss-of-function variants DO NOT cause this phenotype | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | missense |
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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | somatic, mosaicism, gene-checked |
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 | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | 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 | 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 | 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 | 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 |
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 | Early onset or syndromic epilepsy | 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, imprinted status unknown | N/A | N/A |
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, biallelic mutations in females | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | 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 | 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 | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Catecholaminergic polymorphic VT | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi, new-gene-name |
Green | Likely inborn error of metabolism | 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 | Likely inborn error of metabolism | 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 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | gene-checked |
Green | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | BOTH monoallelic and 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Long QT syndrome | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Progressive cardiac conduction disease | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Brugada syndrome and cardiac sodium channel disease | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Paediatric or syndromic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | 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 | 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, 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | 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 | 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 | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | 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 | monogenic-polygenic |
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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | treatable |
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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q2_24_NHS_review, Q2_24_MOI, Q2_24_expert_review |
Green | Likely inborn error of metabolism | 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 | Likely inborn error of metabolism | 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 | 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 | 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 | 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 | 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 | Likely inborn error of metabolism | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | founder-effect |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | locus-type-small-nucleolar |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
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 | gene-checked, new-gene-name |
Green | Paediatric or syndromic cardiomyopathy | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Paediatric or syndromic cardiomyopathy | 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 | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | 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 | 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 | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
Green | Paediatric or syndromic cardiomyopathy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
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 | gene-checked |
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 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | Catecholaminergic polymorphic VT | 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 | 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 |
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 | treatable |
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 | 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, biallelic mutations in females | 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 | 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 | gene-checked |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Arrhythmogenic right ventricular cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Paediatric or syndromic cardiomyopathy | 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 | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Progressive cardiac conduction disease | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | 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 | 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 | Dilated and arrhythmogenic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
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 | Catecholaminergic polymorphic VT | 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 | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Hypertrophic cardiomyopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | mosaicism |
Green | Early onset or syndromic epilepsy | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | new-gene-name |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | 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 | Hypertrophic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | treatable |
Green | Progressive cardiac conduction disease | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | 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 | 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | Early onset or syndromic epilepsy | 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 | 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 | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | 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 | Loss-of-function variants DO NOT cause this phenotype | founder-effect |
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 | 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 | 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 | 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 | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Dilated and arrhythmogenic cardiomyopathy | 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 | 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 | 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 | 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 | 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 | Loss-of-function variants DO NOT cause this phenotype | missense, gene-checked |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/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 | 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 | Likely inborn error of metabolism | BOTH monoallelic and 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 | 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 | 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 | Early onset or syndromic epilepsy | 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, imprinted status unknown | N/A | N/A |
Green | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Early onset or syndromic epilepsy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |