Molecular autopsy
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: 0.82

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

North West GLH
Expert Review Green

Phenotypes

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

OMIM

604427

Clinvar variants

Variants in SCN10A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to SCN10A. Added phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A Publications for gene SCN10A were changed from 24998131; 29016797; 30177317 to 30420954; 24998131; 27761167; 19862833; 16301704

20 Dec 2018, Gel status: 4

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