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Sick sinus syndrome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported.
Created: 1 Aug 2021, 5:55 a.m. | Last Modified: 1 Aug 2021, 5:55 a.m.
Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sick sinus syndrome 1, MIM# 608567

Publications

Created: 1 Aug 2021, 5:55 a.m.
Last Modified: 1 Aug 2021, 5:55 a.m.
Panel version: 0.3

History Filter Activity

1 Aug 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).

1 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN5A were changed from to Sick sinus syndrome 1, MIM# 608567

1 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN5A were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN5A was added gene: SCN5A was added to Sick sinus syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN5A was set to BIALLELIC, autosomal or pseudoautosomal