SCN5A

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

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Amber SCN5A in Idiopathic ventricular fibrillation

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.1

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

Red SCN5A in COVID-19 research


Level 2: Viral research
Version 1.77

review Not set
Sources
  • OMIM

Green SCN5A 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 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 2.7
    Latest signed off version: v2.4 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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 cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.9 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 2.22
    Latest signed off version: v2.20 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • 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 1.68

    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

    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 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 cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.24
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 1.385

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

    Green SCN5A in Cardiomyopathies - including childhood onset


    Version 1.39
    Latest signed off version: v1.4 (19 Feb 2020)

    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 NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

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