SCN5A

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Amber SCN5A in Idiopathic ventricular fibrillation

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ventricular fibrillation, familial, 1, 603829
  • Ventricular fibrillation, familial, 1,
  • Paroxysmal Familial Ventricular Fibrillation
No list SCN5A in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Red SCN5A in COVID-19 research


Level 2: Viral research
Version 1.146

review Not set
Sources
  • OMIM
Green SCN5A 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 Green
    • South West GLH
    • London South GLH
    • Wessex and West Midlands GLH
    • Expert list
    Phenotypes
    • Heart block, progressive, OMIM:113900
    • Heart block, progressive, type IA, OMIM:113900
    Amber SCN5A 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
    • South West GLH
    • North West GLH
    • Expert Review Amber
    • Brugada syndrome (Version 1.7)
    • Long QT syndrome (Version 1.5)
    • Emory Genetics Laboratory
    • Literature
    Phenotypes
    • Ventricular fibrillation, familial, 1 (603829)
    • Brugada syndrome 1 (601144)
    • {Sudden infant death syndrome, susceptibility to} (272120)
    • Brugada syndrome 1 601144
    • Heart block, progressive, type IA (113900)
    • Heart block, nonprogressive (113900)
    • Sick sinus syndrome 1 (608567)
    • Long QT syndrome-3 (603830)
    • Cardiomyopathy, dilated, 1E (601154)
    • Atrial fibrillation, familial, 10 (614022)
    Tags
    • watchlist
    Red SCN5A in Arrhythmogenic right ventricular cardiomyopathy


    Level 2: Cardiology
    Version 3.15
    Latest signed off version: v3.13 (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
    • South West GLH
    • London South GLH
    • Literature
    Phenotypes
    • Arrhythmogenic right ventricular cardiomyopathy
    • Long QT syndrome
    • Brugada syndrome
    • Dilated cardiomyopathy
    • Arrhythmogenic right ventricular cardiomyopathy
    Green SCN5A in Long QT syndrome


    Level 2: Cardiology
    Version 3.12
    Latest signed off version: v3.10 (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 Green
    • Eligibility statement prior genetic testing
    • Expert list
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Ventricular fibrillation, familial, 1 (603829)
    • Brugada syndrome 1 (601144)
    • Heart block, nonprogressive (113900)
    • Heart block, progressive, type IA (113900)
    • {Sudden infant death syndrome, susceptibility to} (272120)
    • Sick sinus syndrome 1 (608567)
    • Long QT syndrome-3
    • Long QT syndrome-3 (603830)
    • Cardiomyopathy, dilated, 1E (601154)
    • Atrial fibrillation, familial, 10 (614022)
    Green SCN5A 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
    • London South GLH
    • North West GLH
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cardiomyopathy, dilated, 1E
    Green SCN5A in Brugada syndrome and cardiac sodium channel disease


    Level 2: Cardiology
    Version 3.14
    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
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Brugada syndrome 1, 601144
    • Brugada syndrome 1, MONDO:0011001
    Green SCN5A in Dilated and arrhythmogenic cardiomyopathy


    Level 2: Cardiology
    Version 3.11
    Latest signed off version: v3.0 (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, imprinted status unknown
    Sources
    • Expert Review Green
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Cardiomyopathy, dilated, 1E
    Green SCN5A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • {Sudden infant death syndrome, susceptibility to}, OMIM:272120
    • Long QT syndrome 3, OMIM:603830
    Red SCN5A in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Green SCN5A in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Dilated cardiomyopathy
    • Long QT syndrome
    • Brugada syndrome
    • Cardiomyopathy, dilated, 1E
    • Arrhythmogenic right ventricular cardiomyopathy
    Red SCN5A in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy