Newborns additional phenotypes panel 1
Gene: SCN5A

SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 14 panels

1 review

Mafalda Gomes (Genomics England Curator)

SCN5A curation results (clinicalgenome.org)
Created: 14 Sep 2023, 11:02 a.m. | Last Modified: 14 Sep 2023, 11:02 a.m.

Panel Version: 0.46

Created: 14 Sep 2023, 11:02 a.m.
Last Modified: 14 Sep 2023, 11:02 a.m.
Panel version: 0.46

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

Brugada syndrome 1 plus cardiac conduction defects

OMIM

600163

Clinvar variants

Variants in SCN5A

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: SCN5A was added gene: SCN5A was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN5A were set to Brugada syndrome 1 plus cardiac conduction defects Mode of pathogenicity for gene: SCN5A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Newborns additional phenotypes panel 1 Gene: SCN5A