Arrhythmogenic right ventricular cardiomyopathy

Gene: SCN5A

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

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

• 26916278
• 24317018
• 28069705

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

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

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.