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  3. SCN5A
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Stroke

Gene: SCN5A

Green List (high evidence)
SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Early onset stroke has been reported in at least 4 families.
Sources: Literature
Created: 12 May 2020, 6:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial fibrillation, familial, 10 MIM#614022

Publications

Created: 12 May 2020, 6:59 a.m.

Panel version: 0.47

History Filter Activity

17 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn5a has been classified as Green List (High Evidence).

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: scn5a has been classified as Green List (High Evidence).

12 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCN5A was added gene: SCN5A was added to Stroke. Sources: Literature Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to 30356112; 29579189; 28294644; 16684018 Phenotypes for gene: SCN5A were set to Atrial fibrillation, familial, 10 MIM#614022 Review for gene: SCN5A was set to GREEN