Idiopathic ventricular fibrillation
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
1 review
Juan Pablo Kaski (Great Ormond Street Hospital/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LQT; Brugada syndrome; DCM
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ventricular fibrillation, familial, 1, 603829
- Ventricular fibrillation, familial, 1,
- Paroxysmal Familial Ventricular Fibrillation
- OMIM
- 600163
- Clinvar variants
- Variants in SCN5A
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Brugada syndrome and cardiac sodium channel disease
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Progressive cardiac conduction disease
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Long QT syndrome
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- COVID-19 research
- Idiopathic ventricular fibrillation
- Fetal hydrops
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
22 Mar 2018, Gel status: 2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)22rd March 2018. Panel reviews were assessed, and panel was revised according to reviews and further curation.
25 Jul 2017, Gel status: 2
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
23 Mar 2017, Gel status: 2
Added New Source
Olivia Niblock (Genomics England Curator)SCN5A was added to Idiopathic ventricular fibrillationpanel. Source: Illumina TruGenome Clinical Sequencing Services
23 Mar 2017, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)SCN5A was created by oniblock
23 Mar 2017, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)SCN5A was added to Idiopathic ventricular fibrillationpanel. Sources: Radboud University Medical Center, Nijmegen