Long QT Syndrome
Gene: SCN5AEnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 16 panels
2 reviews
Ivan Macciocca (Victorian Clinical Genetics Services)
definitive as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working GroupCreated: 31 May 2020, 2:13 p.m. | Last Modified: 31 May 2020, 2:13 p.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
long QT syndrome; Brugada syndrome; dilated cardiomyopathy
Publications
- PMID: 31983240
Variants in this GENE are reported as part of current diagnostic practice
Crystle Lee (Victorian Clinical Genetics Services)
Well-reported gene/disease association.
Long QT associated with gain-of-function variants (PMID: 29798782)Created: 28 Feb 2020, 4:52 a.m. | Last Modified: 28 Feb 2020, 4:52 a.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Long QT syndrome 3 (MIM#603830)
Publications
- PMID: 29798782
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Long QT syndrome 3 (MIM#603830)
- OMIM
- 600163
- Clinvar variants
- Variants in SCN5A
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scn5a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SCN5A were changed from to Long QT syndrome 3 (MIM#603830)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SCN5A were set to 29798782
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SCN5A were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN5A was set to Unknown