Table 1 |.
Genes frequently associated with inherited cardiac arrhythmias
| Gene | Protein | Function | Associated disorder | Inheritance |
|---|---|---|---|---|
| KCNQ1 | Potassium voltage-gated channel subfamily KQT member 1 (also known as KV7.1) | Subunit of the voltage-gated potassium channel responsible for the IKs current | LQTS (LQT1) | AD |
| Jervell and Lange-Nielsen syndrome | AR | |||
| SQTS (SQT2) | AD | |||
| KCNH2 | Potassium voltage-gated channel subfamily H member 2 (also known as KV11.1) | Pore-forming subunit of the voltage-gated potassium channel responsible for the IKr current | LQTS (LQT2) and SQTS (SQT1) | AD |
| KCNE1 | Potassium voltage-gated channel subfamily E member 1 | Subunit of the potassium channel responsible for the IKs current | Jervell and Lange-Nielsen syndrome | AR |
| KCNJ2 | Inward rectifier potassium channel 2 (Kir2.1) | Potassium channel responsible for the IK1 current | Andersen–Tawil syndrome and SQTS (SQT3) | AD |
| SCN5A | Sodium channel protein type 5 subunit-α (also known as NaV1.5) | Subunit of the voltage-gated sodium channel responsible for the INa current | LQTS (LQT3) | AD |
| BrS | Complex inheritance | |||
| CALM1 | Calmodulin 1 | Calcium-binding protein | LQTS and CPVT | AD |
| CALM2 | Calmodulin 2 | Calcium-binding protein | LQTS and CPVT | AD |
| CALM3 | Calmodulin 3 | Calcium-binding protein | LQTS | AD |
| ANK2 | Ankyrin B | Protein involved in the localization and membrane stabilization of ion transporters and ion channels | CPVT | AD |
| TRDN | Triadin | Sarcoplasmic reticulum component of the calcium release unit | LQTS and CPVT | AR |
| CACNA1C | Voltage-dependent L-type calcium channel subunit α1C (also known as CaV1.2) | Pore-forming subunit of the calcium channel responsible for L-type calcium currents | Timothy syndrome | AD |
| RYR2 | Ryanodine receptor 2 | Sarcoplasmic reticulum calcium channel | CPVT | AD |
| CASQ2 | Calsequestrin 2 | Component of the sarcoplasmic reticulum calcium release unit | CPVT | AR |
| TECRL | Trans-2,3-enoyl-CoA reductase-like | Endoplasmic reticulum protein | CPVT | AR |
AD, autosomal dominant; AR, autosomal recessive; BrS, Brugada syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia; LQT1, type 1 long QT syndrome; LQTS, long QT syndrome; SQT1, type 1 short QT syndrome; SQTS, short QT syndrome.