Sudden cardiac death - previous panelGene: CACNA2D1
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. Only class 1-3 variants detected to date. 18 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
Variants in this GENE are reported as part of current diagnostic practice
gene: CACNA2D1 was added gene: CACNA2D1 was added to Sudden cardiac death. Sources: North West GLH,London South GLH,Expert Review Amber Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA2D1 were set to 20817017; 27761167; 17224476; 16301704; 19862833; 30420954 Phenotypes for gene: CACNA2D1 were set to short qt; cardiac arrhythmia; Brugada/Brugada like syndrome; Sudden death; Brugada syndrome; aborted sudden death; Short QT syndrome 6