To date, around 350 missense mutations have been identified in RyR2, most linked with catecholaminergic polymorphic ventricular tachycardia (CPVT) (Venetucci et al., 2012; Fowler and Zissimopoulos, 2022). The gene discussed is RYR2; the disease is catecholaminergic polymorphic ventricular tachycardia.