Short QT syndrome
Gene: CACNA1CEnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 15 panels
1 review
Daniel Flanagan (Victorian Clinical Genetics Services)
Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. 5 probands with suggested SQTS phenotype, 3 had Brugada syndrome with a relatively short QT interval, 1 had HCM without a convincing SQTS phenotype, and the 5th had a reported de novo variant that was too frequent in gnomAD to be associated with SQTS.
Sources: Expert ReviewCreated: 11 Oct 2021, 4:39 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
- 114205
- Clinvar variants
- Variants in CACNA1C
- Penetrance
- None
- Publications
-
- PMID: 34557911
- Panels with this gene
-
- Brugada syndrome
- Hyperinsulinism
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Hand and foot malformations
- Short QT syndrome
- Long QT Syndrome
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Autism
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1c has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1c 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: CACNA1C.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: CACNA1C was added gene: CACNA1C was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to PMID: 34557911 Phenotypes for gene: CACNA1C were set to Short QT syndrome Review for gene: CACNA1C was set to RED