SCN1B

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber SCN1B in Progressive cardiac conduction disease


Version 1.37
Latest signed off version: v1.5 (20 Aug 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • South West GLH
    • London South GLH
    Phenotypes
    • Cardiac conduction defect, nonspecific, OMIM:612838

    Red SCN1B in Short QT syndrome


    Version 2.13
    Latest signed off version: v2.4 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • Superpanel_TEST
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Brugada syndrome (Version 1.7)
    Phenotypes
    • Cardiac conduction defect, nonspecific (612838)
    • Atrial fibrillation, familial, 13 (615377)
    • Brugada syndrome 5 (612838)
    • Epileptic encephalopathy, early infantile, 52 (617350)
    • Epilepsy, generalized, with febrile seizures plus, type 1 (604233)

    Amber SCN1B in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.67

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiac conduction defect, nonspecific
    • Nonspecific Cardiac Conduction Defect

    Red SCN1B in Brugada syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 2.33
    Latest signed off version: v2.4 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • review BIALLELIC, autosomal or pseudoautosomal
    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
    • Brugada syndrome 5, OMIM:612838

    Red SCN1B in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    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 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233
    • BRUGADA SYNDROME 5 612838

    Green SCN1B in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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
    • Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD
    • Epileptic encephalopathy, early infantile, 52 617350 AR

    Amber SCN1B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Developmental and epileptic encephalopathy 52, OMIM:617350
    • Developmental and epileptic encephalopathy, 52, MONDO:0033361

    Green SCN1B in Severe Paediatric Disorders


    Version 1.66

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, generalized, with febrile seizures plus, type 1, 604233
    • Cardiac conduction defect, nonspecific, 612838
    • Epileptic encephalopathy, early infantile, 52, 617350
    • Atrial fibrillation, familial, 13, 615377
    • Brugada syndrome 5, 612838