Sudden cardiac death - previous panel
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
gene: CACNA1C was added gene: CACNA1C was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1C were set to 24291113; 18250309; 16301704 Phenotypes for gene: CACNA1C were set to short qt; brugada syndrome; scd; Long QT syndrome; Hypertrophic cardiomyopathy; syncope; Brugada syndrome 3 611875; Brugada syndrome; Brugada syndrome 3; Timothy syndrome (601005); Brugada syndrome 3 (611875)