Unexplained death in infancy and sudden unexplained death in childhood (Version: )

Relevant disorders: R441
This panel contains these 11 panels:
  • Early onset or syndromic epilepsy
  • Likely inborn error of metabolism
  • Paediatric or syndromic cardiomyopathy
  • Dilated and arrhythmogenic cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Short QT syndrome
  • Long QT syndrome
  • Catecholaminergic polymorphic VT
  • Progressive cardiac conduction disease
  • Arrhythmogenic right ventricular cardiomyopathy
  • Brugada syndrome and cardiac sodium channel disease
Signed off date: 7 Aug 2024
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
1276 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Hypertrophic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
Early onset or syndromic epilepsy
STR
BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Progressive cardiac conduction disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/ASkewed 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/ASkewed X-inactivation
Green
Likely inborn error of metabolism
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked, locus-type-rna-micro
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/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/AN/A
Green
Progressive cardiac conduction disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Hypertrophic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
Likely inborn error of metabolism
STR
BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
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/AN/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/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/ASTR, watchlist_moi
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemosaicism, somatic
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
Early onset or syndromic epilepsy
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
Xq28 region (includes MECP2) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
Xq25 region (includes STAG2) Gain
region
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense, watchlist_moi
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
Long QT syndrome
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Long QT syndrome
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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/AN/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/AN/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/AN/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/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-ribosomal
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
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/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ2_24_MOI, Q2_24_NHS_review
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Loss-of-function variants DO NOT cause this phenotypeN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, promoter
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Apromoter, non-coding-known-pathogenic
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Amissense
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AQ2_24_demote_red, Q2_24_expert_review, Q2_24_NHS_review
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Afounder-effect
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Adisputed, Q1_24_demote_amber, Q1_24_expert_review
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Amissense
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypesomatic, mosaicism, gene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi, new-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthergene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Brugada syndrome and cardiac sodium channel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Atreatable
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ2_24_NHS_review, Q2_24_MOI, Q2_24_expert_review
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Hypertrophic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable
Green
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypefounder-effect
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense, 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/AN/A
Green
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A