Hypertrophic cardiomyopathy_HCM
Gene: CACNA1CEnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 15 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Classified as Definitive by the ClinGen HCVD GCEP for Timothy Syndrome, including left ventricular hypertrophy as a feature of the condition associated with some specific missense variants - https://search.clinicalgenome.org/CCID:008324. One of the 29 recommended HCM genes.Created: 22 Aug 2024, 8:34 a.m. | Last Modified: 22 Aug 2024, 8:34 a.m.
Panel Version: 0.184
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Evidence only of association of a specific missense with HCM.Created: 21 Jul 2023, 6:34 a.m. | Last Modified: 21 Jul 2023, 6:34 a.m.
Panel Version: 0.173
Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.
Sources: Expert listCreated: 5 Aug 2020, 8:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
- 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
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: CACNA1C were set to 26253506; 28490369; 28866666
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)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 Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities to Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1c has been classified as Amber List (Moderate 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).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CACNA1C was added gene: CACNA1C was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to 26253506; 28490369; 28866666 Phenotypes for gene: CACNA1C were set to Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities Review for gene: CACNA1C was set to RED