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Cardiomyopathies - including childhood onset

Gene: SCN5A

Green List (high evidence)

SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Atrial fibrillation, familial, 10 OMIM#614022; Brugada syndrome 1 OMIM#601144; Cardiomyopathy, dilated, 1E OMIM#601154; Heart block, nonprogressive OMIM#113900; Heart block, progressive, type IA OMIM#113900; Long QT syndrome-3 OMIM#603830; Sick sinus syndrome 1 OMIM#608567; Ventricular fibrillation, familial, 1 OMIM#603829 {Sudden infant death syndrome, susceptibility to} OMIM#272120
Created: 25 Mar 2019, 4:30 p.m.
HGMD: Variant in our family reported 12 times to HGMD, with LQT and Brugada as well as DCM. 22 variants assoc with DCM reported to HGMD - 11 ?DM rest DM. Many with multiple literature evidence. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quotes 2-3% of DCM cases have an SCN5A variant) and Pugh (2014) Genet Med 16, 601. OMIM: records neonates and paediatric cases with sudden death due to arrhythmic episodes and sick sinus syndrome. Rare case of paediatric DCM with a variant in SCN5A reported by Olson JAMA. 2005 Jan 26;293(4):447-54.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
600163
Clinvar variants
Variants in SCN5A
Penetrance
None
Publications
  • 24317018
  • doi:10. 1007/ s12265-016-9673-5
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SCN5A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SCN5A.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SCN5A was added gene: SCN5A was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: SCN5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN5A were set to 24317018; doi:10. 1007/ s12265-016-9673-5 Phenotypes for gene: SCN5A were set to Dilated cardiomyopathy; Long QT syndrome; Brugada syndrome; Cardiomyopathy, dilated, 1E; Arrhythmogenic right ventricular cardiomyopathy