SCN1B

sodium voltage-gated channel beta subunit 1
OMIM: 600235, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Amber SCN1B in Progressive cardiac conduction disease


Level 2: Cardiology
Version 2.13
Latest signed off version: v2.10 (30 Apr 2025)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • South West GLH
    • London South GLH
    Phenotypes
    • Cardiac conduction defect, nonspecific, OMIM:612838
    • Brugada syndrome 5, OMIM:612838
    • Atrial fibrillation, familial, 13, OMIM:615377
    Red SCN1B in Short QT syndrome


    Level 2: Cardiology
    Version 3.16
    Latest signed off version: v3.14 (30 Apr 2025)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Brugada syndrome (Version 1.7)
    Phenotypes
    • Cardiac conduction defect, nonspecific, OMIM:612838
    • Brugada syndrome 5, OMIM:612838
    • Atrial fibrillation, familial, 13, OMIM:615377
    Amber SCN1B in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.97

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiac conduction defect, nonspecific, OMIM:612838
    • Brugada syndrome 5, OMIM:612838
    • Atrial fibrillation, familial, 13, OMIM:615377
    Red SCN1B in Brugada syndrome and cardiac sodium channel disease


    Level 2: Cardiology
    Version 3.15
    Latest signed off version: v3.12 (30 Apr 2025)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cardiac conduction defect, nonspecific, OMIM:612838
    • Brugada syndrome 5, OMIM:612838
    • Atrial fibrillation, familial, 13, OMIM:615377
    Tags
    • disputed
    Red SCN1B in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1
    • BRUGADA SYNDROME 5
    Green SCN1B in DDG2P


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233
    • BRUGADA SYNDROME 5 612838
    Green SCN1B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 52, OMIM:617350 (AR)
    • Generalized epilepsy with febrile seizures plus, type 1, OMIM:604233 (AD)
    Amber SCN1B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Developmental and epileptic encephalopathy 52, OMIM:617350
    • Developmental and epileptic encephalopathy, 52, MONDO:0033361