Congenital Myasthenia
Gene: SCN4A

SCN4A (sodium voltage-gated channel alpha subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000007314
EnsemblGeneIds (GRCh37): ENSG00000007314
OMIM: 603967, Gene2Phenotype
SCN4A is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene cause a muscle channelopathy with multiple related phenotypes on a spectrum, including myasthenic syndrome.
Created: 23 Oct 2020, 9:39 a.m. | Last Modified: 23 Oct 2020, 9:39 a.m.

Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 16, MIM# 614198

Publications

Created: 23 Oct 2020, 9:39 a.m.
Last Modified: 23 Oct 2020, 9:39 a.m.
Panel version: 0.34

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Myasthenic syndrome, congenital, 16, 614198

OMIM

603967

Clinvar variants

Variants in SCN4A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn4a has been classified as Green List (High Evidence).

23 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN4A were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCN4A was added gene: SCN4A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCN4A were set to Myasthenic syndrome, congenital, 16, 614198

Congenital Myasthenia Gene: SCN4A