SCN1B:Ensemblv90

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red SCN1B in Brugada syndrome


Level 2: Cardiovascular disorders
Version 0.44

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • 1 review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brugada syndrome 1, MONDO:0011001
    Tags
    • disputed

    Green SCN1B in Incidentalome


    Version 0.370

    1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SCN1B in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.309

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy (MONDO:0100062)
    • generalized epilepsy with febrile seizures plus (MONDO:0018214)

    Green SCN1B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 52, MIM#617350

    Red SCN1B in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Brugada syndrome

    Red SCN1B in Fetal anomalies


    Version 1.482

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 52, MIM#617350
    • Atrial fibrillation, familial, 13, MIM# 615377

    Green SCN1B in Familial Generalised Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.15

    0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • GREP
    • Expert Review Green
    Phenotypes
    • Epileptic encephalopathy, early infantile, 52 617350 AR
    • Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD

    Green SCN1B in Prepair 1000+


    Level 2: Screening
    Version 2.15

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 52, MIM#617350

    Red SCN1B in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Brugada syndrome

    Red SCN1B in Brugada syndrome


    Level 2: Cardiovascular disorders
    Version 1.0

    1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Brugada syndrome 1, MONDO:0011001
    Tags
    • disputed

    Green SCN1B in Incidentalome


    Version 1.0

    1 review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green SCN1B in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy (MONDO:0100062)
    • generalized epilepsy with febrile seizures plus (MONDO:0018214)

    Green SCN1B in Familial Generalised Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • GREP
    Phenotypes
    • Epileptic encephalopathy, early infantile, 52 617350 AR
    • Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD

    Green SCN1B in Prepair 1000+


    Level 2: Screening
    Version 3.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 52, MIM#617350