SCN1B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Progressive cardiac conduction disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Brugada syndrome and cardiac sodium channel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Short QT syndrome

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Generalized epilepsy with febrile seizures-plus

  0.75

• developmental and epileptic encephalopathy, 52

  0.74

• atrial fibrillation, familial, 13

  0.71

• Brugada syndrome 5

  0.70

• Familial progressive cardiac conduction defect

  0.55

• Brugada syndrome

  0.51

• Abnormality of the cardiovascular system

  0.50

• genetic developmental and epileptic encephalopathy

  0.47

• generalized epilepsy with febrile seizures plus

  0.47

• Dravet syndrome

  0.47

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)