Sudden cardiac death - previous panel
Gene: CASQ2
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. 12 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with autosomal recessive CPVT2 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: CASQ2 was added gene: CASQ2 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASQ2 were set to 19121813; 27761157 Phenotypes for gene: CASQ2 were set to Catecholaminergic polymorphic ventricular tachycardia; Left ventricular non-compaction; Hypertrophic cardiomyopathy; Ventricular tachycardia, catecholaminergic polymorphic, 2; Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)