SCN5A

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

13 panels

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

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.2

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 1.64

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


Level 2: Viral research
Version 1.141

review Not set
Sources
  • OMIM
Green SCN5A in Progressive cardiac conduction disease


Version 2.6
Latest signed off version: v2.2 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • 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


    Version 3.10
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • 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 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 3.9
    Latest signed off version: v3.5 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • 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 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.7
    Latest signed off version: v3.1 (22 Mar 2023)

    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 1.85

    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 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.8
    Latest signed off version: v3.2 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • 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 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • 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
    Red SCN5A in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.477

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


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    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


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

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