Short QT syndrome
Gene: SCN5AEnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 16 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with a rare SCN5A variant, however, the expert panel regarded this phenotype as being concordant with Brugada syndrome and not SQTS.
Sources: Expert ReviewCreated: 11 Oct 2021, 4:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short QT syndrome
Publications
- PMID: 34557911
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Short QT syndrome
- Tags
- OMIM
- 600163
- Clinvar variants
- Variants in SCN5A
- Penetrance
- None
- Publications
-
- PMID: 34557911
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scn5a has been classified as Red List (Low Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: SCN5A.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: SCN5A was added gene: SCN5A was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to PMID: 34557911 Phenotypes for gene: SCN5A were set to Short QT syndrome Review for gene: SCN5A was set to RED