Table 3: Genes linked to short QT syndrome.

TypeOMIMGeneProteinFunctional role in cardiomyocytesEffect of mutation

Autosomal dominant inheritance

SQT1#609620KCNH2 (HERG) Kv11.1α subunit of channelGain of function of
SQT2#609621KCNQ1 (KVLQT1) Kv7.1 (KvLQT1)α subunit of channelGain of function of
SQT3#609622KCNJ2 Kir2.1α subunit of channelGain of function of
SQT4CACNA1C Cav1.2 subunit of channelLoss of function of
SQT5CACNB2b Cavβ2b subunit of channelLoss of function of
SQT6CACNA2D1 Cavα 2δ-1α 2δ subunit of channelLoss of function of

OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; SQT1–SQT6: short QT syndrome types 1–6; : L-type calcium current; : inward rectifier potassium current; : rapid delayed rectifier potassium current; : slow delayed rectifier potassium current.