Long QT Syndrome
Gene: CACNA1CEnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 15 panels
1 review
Ivan Macciocca (Victorian Clinical Genetics Services)
Gene with definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working GroupCreated: 31 May 2020, 1:19 p.m. | Last Modified: 31 May 2020, 1:19 p.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
long QT syndrome; Timothy syndrome
Publications
- PMID: 31983240
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Long QT syndrome 8, MIM# 618447
- Timothy syndrome, MIM# 601005
- OMIM
- 114205
- Clinvar variants
- Variants in CACNA1C
- Penetrance
- None
- Publications
- 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CACNA1C were changed from Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005 to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CACNA1C were changed from to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CACNA1C were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CACNA1C 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: CACNA1C was added gene: CACNA1C was added to Long QT syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CACNA1C was set to Unknown