Table 4: Genes linked to catecholaminergic polymorphic ventricular tachycardia.

Type OMIM Gene Protein Functional role in cardiomyocytes Effect of mutation       Autosomal dominant inheritance CPVT1 #604772 RYR2 RyR2 Ryanodine receptor in SR membrane Calcium leak from SR       Autosomal recessive inheritance CPVT2 #611938 CASQ2 Calsequestrin-2 Calcium buffering in SR Disrupted SR calcium buffering capacity NC — TRDN Triadin Links calsequestrin-2 and RyR2 Impaired 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.