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. 2019 Sep 30;90(Suppl 10):20–29. doi: 10.23750/abm.v90i10-S.8751

Table 2.

Genes associated with various forms of catecholaminergic polymorphic ventricular tachycardia

Gene OMIM gene Disease OMIM disease Inheritance Function
RYR2 180902 CPVT1 604772 AD Ca2+ channel triggers cardiac muscle contraction
CASQ2 114251 CPVT2 611938 AR Regulates release of luminal Ca2+ via RYR2
TECRL 617242 CPVT3 614021 AR Ca2+ transport into myocytes
CALM1 114180 CPVT4 614916 AD Regulates release of Ca2+ via RYR2
TRDN 603283 CPVT5 with/without muscle weakness 615441 AR Regulates release of luminal Ca2+ release via RYR1 and RYR2
KCNJ2 600681 CPVT / AD Establishes action potential and excitability of neurons and muscles

AD=Autosomal dominant; AR=Autosomal recessive