Molecular autopsy
Gene: CACNA1C
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. 74 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome 1 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 3 (611875); Timothy syndrome (601005)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to CACNA1C.
Source North West GLH was added to CACNA1C. Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C Publications for gene CACNA1C were changed from doi:10. 1007/ s12265-016-9673-5; 24183960 to 18250309; 24291113; 16301704
Added phenotypes Hypertrophic cardiomyopathy; Brugada syndrome; Long QT syndrome for gene: CACNA1C Publications for gene CACNA1C were changed from 15454078; 17224476; 29759541; 28427417; 28490369; 29697308 to doi:10. 1007/ s12265-016-9673-5; 24183960
gene: CACNA1C was added gene: CACNA1C was added to Molecular autopsy. 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 15454078; 17224476; 29759541; 28427417; 28490369; 29697308 Phenotypes for gene: CACNA1C were set to Brugada syndrome 3; brugada syndrome; scd; Brugada syndrome 3 611875; syncope; short qt