Arrhythmogenic cardiomyopathy

Gene: SCN5A

Red List (low evidence)

SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 11 panels

5 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45

James Eden (Manchester)

Red List (low evidence)

Gene is not tested on Manchester ARVC panel. Rated red for a focussed ARVC panelapp panel.
Created: 27 Sep 2019, 8:43 a.m. | Last Modified: 27 Sep 2019, 8:43 a.m.
Panel Version: 1.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton ACM panel, due to high burden of arrhythmia's and conduction disorders with cardiomyopathy overlap
Created: 18 Sep 2019, 11:01 p.m. | Last Modified: 18 Sep 2019, 11:01 p.m.
Panel Version: 1.36

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

Rebecca Whittington (South West GLH)

Red List (low evidence)

Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154) ; Heart block, nonprogressive (113900); Long QT3 (603830)
Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Few variants on HGMD. 24317018 - I137M identified in one proband (no MAF, BI supporting). 28341781 DM origionally but downgraded to ?DM. Little evidence
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
On the Inherited Cardiac Condition Genes panel for Arrhythmogenic right ventricular cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Created: 19 Feb 2016, 2:34 p.m.

Details

Mode of Inheritance
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
OMIM
600163
Clinvar variants
Variants in SCN5A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SCN5A were set to 24317018; doi:10.​1007/​s12265-016-9673-5

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SCN5A. Mode of inheritance for gene SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to SCN5A.

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SCN5A was created by ellenmcdonagh

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN5A was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Literature