Cardiac arrhythmias - previous panel
Gene: CACNA1CEnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 10 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- brugada syndrome
- Brugada syndrome 3 611875
- short qt
- syncope
- Brugada syndrome 3
- scd
- OMIM
- 114205
- Clinvar variants
- Variants in CACNA1C
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Checked against the component panels, and ready to be promoted to version 1.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Brugada syndrome 3 for gene: CACNA1C
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: CACNA1C was added gene: CACNA1C was added to Cardiac arrythmias. Sources: Expert Review Green Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1C were set to 28427417; 28490369; 17224476; 29697308; 29759541; 15454078 Phenotypes for gene: CACNA1C were set to brugada syndrome; Brugada syndrome 3 611875; short qt; syncope; scd