Cardiomyopathy_Paediatric
Gene: SCN5A
SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 16 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- South West GLH
- NHS GMS
- Phenotypes
-
- Dilated cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- Brugada syndrome
- Cardiomyopathy, dilated, 1E
- Long QT syndrome
- OMIM
- 600163
- Clinvar variants
- Variants in SCN5A
- Penetrance
- None
- Publications
-
- doi:10. 1007/ s12265-016-9673-5
- 24317018
- Panels with this gene
-
- Stroke
- Brugada syndrome
- Additional findings_Adult
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Transplant Co-Morbidity Superpanel
- Ventricular Fibrillation
- Short QT syndrome
- Long QT Syndrome
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Dilated Cardiomyopathy
- Sick sinus syndrome
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SCN5A was added gene: SCN5A was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,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 doi:10. 1007/ s12265-016-9673-5; 24317018 Phenotypes for gene: SCN5A were set to Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Cardiomyopathy, dilated, 1E; Long QT syndrome