Table 1: Genes linked to long QT syndrome.

TypeOMIMGeneProteinFunctional role in cardiomyocytesEffect of mutation

Autosomal dominant inheritance

LQT1#192500KCNQ1 (KVLQT1) Kv7.1 (KvLQT1)α subunit of channelLoss of function of
LQT2#613688KCNH2 (HERG) Kv11.1α subunit of channelLoss of function of
LQT3#603830SCN5A Nav1.5α subunit of channelGain of function of
LQT4#600919ANK2 Ankyrin-BAnchoring proteinLoss of function of multiple ion channels and transporters
LQT5#613695KCNE1 KCNE1 (minK)β subunit of channelLoss of function of
LQT6#613693KCNE2 KCNE2 (MiRP1)β subunit of channelLoss of function of
LQT7#170390KCNJ2 Kir2.1α subunit of channelLoss of function of
LQT8#601005CACNA1C Cav1.2α 1C subunit of channelGain of function of
LQT9#611818CAV3 Caveolin-3Caveolar coatingGain of function of
LQT10#611819SCN4B Navβ4β subunit of channelGain of function of
LQT11#611820AKAP9 YotiaoAnchoring protein for PKA regulatory subunit Loss of function of
LQT12#612955SNTA1 α 1-syntrophinScaffolding proteinGain of function of
LQT13#613485KCNJ5 Kir3.4α subunit of channelLoss of function of

Autosomal recessive inheritance

JLN1#220400KCNQ1 (KVLQT1) Kv7.1 (KvLQT1)α subunit of channelLoss of function of
JLN2#612347KCNE1 KCNE1 (minK)β subunit of channelLoss of function of

OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; LQT1– LQT13: long QT syndrome types 1–13; JLN1 and JLN2: Jervell and Lange-Nielsen syndrome types 1 and 2; : L-type calcium current; : acetylcholine-sensitive potassium current; : inward rectifier potassium current; : rapid delayed rectifier potassium current; : slow delayed rectifier potassium current; : fast sodium current.
Also known as Andersen’s syndrome or Andersen-Tawil syndrome
Also known as Timothy syndrome.