Table 4: Genes linked to catecholaminergic polymorphic ventricular tachycardia.

TypeOMIMGeneProteinFunctional role in cardiomyocytesEffect of mutation

Autosomal dominant inheritance

CPVT1#604772RYR2 RyR2Ryanodine receptor in SR membraneCalcium leak from SR

Autosomal recessive inheritance

CPVT2#611938CASQ2 Calsequestrin-2Calcium buffering in SRDisrupted SR calcium buffering capacity
NCTRDN TriadinLinks calsequestrin-2 and RyR2Impaired SR calcium release

OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; CPVT1 and CPVT2: catecholaminergic polymorphic ventricular tachycardia types 1 and 2; NC: no consensus; SR: sarcoplasmic reticulum.