Sudden cardiac death - previous panel
Gene: SCN10A

SCN10A (sodium voltage-gated channel alpha subunit 10)
EnsemblGeneIds (GRCh38): ENSG00000185313
EnsemblGeneIds (GRCh37): ENSG00000185313
OMIM: 604427, Gene2Phenotype
SCN10A is in 7 panels

1 review

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 85 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Episodic pain syndrome, familial, 2 (615551)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: Imported from Molecular autopsy panel version 0.82

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

North West GLH
Expert Review Green

Phenotypes

J wave syndrome
short QT
sudden death
Episodic pain syndrome, familial, 2 (615551)

OMIM

604427

Clinvar variants

Variants in SCN10A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: SCN10A was added gene: SCN10A was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN10A were set to 27761167; 16301704; 19862833; 30420954; 24998131 Phenotypes for gene: SCN10A were set to J wave syndrome; short QT; sudden death; Episodic pain syndrome, familial, 2 (615551)

Sudden cardiac death - previous panel Gene: SCN10A