SCN5A

sodium voltage-gated channel alpha subunit 5
OMIM: 600163, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green SCN5A in Brugada syndrome


Level 2: Cardiovascular disorders
Version 0.34

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Atrial fibrillation, familial, 10
    • Brugada syndrome 1
    • Cardiomyopathy, dilated, 1E
    • Heart block, nonprogressive
    • Heart block, progressive, type IA
    • Long QT syndrome 3
    • Sick sinus syndrome 1
    • Ventricular fibrillation, familial, 1
    • {Sudden infant death syndrome, susceptibility to}

    Green SCN5A in Dilated Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.33

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1E, MIM# 601154

    Green SCN5A in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Long QT syndrome 3 (MIM#603830)

    Green SCN5A in Incidentalome


    Version 0.301

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Long QT syndrome 3 (MIM#603830)
    • Sick sinus syndrome 1, MIM# 608567
    • Ventricular fibrillation, familial, 1, MIM# 603829
    • Brugada syndrome 1, MIM# 601144
    • Heart block, progressive, type IA, MIM# 113900
    • Cardiomyopathy, dilated, 1E, MIM# 601154
    Tags
    • cardiac

    Green SCN5A in Long QT Syndrome


    Level 2: Cardiovascular disorders
    Version 0.61

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Long QT syndrome 3 (MIM#603830)

    Red SCN5A in Short QT syndrome


    Level 2: Cardiovascular disorders
    Version 1.7

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Short QT syndrome
    Tags
    • disputed

    Green SCN5A in Sick sinus syndrome


    Level 2: Cardiovascular disorders
    Version 1.4

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Sick sinus syndrome 1, MIM# 608567

    Green SCN5A in Ventricular Fibrillation


    Level 2: Cardiovascular disorders
    Version 0.5

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ventricular fibrillation, familial, 1, MIM# 603829

    Green SCN5A in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Atrial fibrillation, familial, 10, MIM# 614022
    • Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900
    • Heart block, progressive, type IA, MIM# 113900
    • Long QT syndrome 3, MIM# 603830

    Green SCN5A in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Atrial fibrillation, familial, 10 MIM#614022

    Green SCN5A in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • Dilated cardiomyopathy
    • Arrhythmogenic right ventricular cardiomyopathy
    • Brugada syndrome
    • Cardiomyopathy, dilated, 1E
    • Long QT syndrome

    Amber SCN5A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Brugada syndrome
    • Long QT syndrome

    Amber SCN5A in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • Expert Review Amber
    • NSW Health Pathology

    Green SCN5A in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Sudden infant death syndrome, susceptibility to - #272120
    • Long QT syndrome 3 - #603830

    Amber SCN5A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    • BeginNGS
    Phenotypes
    • Long QT syndrome 3 (MIM#603830)
    • Brugada syndrome 1, MIM# 601144
    Tags
    • cardiac
    • treatable

    Green SCN5A in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Heart block, nonprogressive
    • Atrial fibrillation, familial, 10
    • Long QT syndrome 3
    • Ventricular fibrillation, familial, 1
    • Cardiomyopathy, dilated, 1E, MIM# 601154
    • Sick sinus syndrome 1
    • Heart block, progressive, type IA
    • Brugada syndrome 1
    • {Sudden infant death syndrome, susceptibility to}