Hypertrophic cardiomyopathy - teen and adultGene: CASQ2
Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
Created: 25 Mar 2019, 4:30 p.m.
ON HGMD assoc with CPVT and ventricular tachycardia (Good evidence).
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
On the Inherited Cardiac Condition Genes panel for Hypertrophic cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Created: 19 Feb 2016, 11:50 a.m.
Source South West GLH was added to CASQ2. Mode of inheritance for gene CASQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
CASQ2 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature
CASQ2 was created by ellenmcdonagh