This Panel is marked as Internal
Cardiac arrhythmias - previous panel
Gene: SCN5A
SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Brugada syndrome 1
- Long QT syndrome-3
- Brugada syndrome 1 601144
- OMIM
- 600163
- Clinvar variants
- Variants in SCN5A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Dilated and arrhythmogenic cardiomyopathy
- COVID-19 research
- Long QT syndrome
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- Short QT syndrome
- Fetal anomalies
- Idiopathic ventricular fibrillation
- Hereditary neuropathy
- Fetal hydrops
- Brugada syndrome and cardiac sodium channel disease
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
History Filter Activity
28 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Checked against the component panels, and ready to be promoted to version 1.
17 Dec 2018, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Brugada syndrome 1 601144 for gene: SCN5A
17 Dec 2018, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Long QT syndrome-3 for gene: SCN5A
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SCN5A was added gene: SCN5A was added to Cardiac arrythmias. Sources: Expert Review Green Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN5A were set to 29697308; 7889574; 28391114; 22490985; doi:10. 1007/ s12265-016-9673-5 Phenotypes for gene: SCN5A were set to Brugada syndrome 1