Table 3.

Genes associated with various forms of long QT syndrome

Gene	OMIM gene	Disease	OMIM disease	Inheritance	Function
KCNQ1	607542	LQT1	192500	AD	Repolarizes cardiac action potential
		JLNS1	220400	AR
KCNH2	152427	LQT2	613688	AD	Pore-forming subunit of voltage-gated inwardly rectifying K+ channel
SCN5A	600163	LQT3	603830	AD	Mediates voltage-dependent Na+ permeability of excitable membranes
ANK2	106410	LQT4	600919	AD	Coordinates assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor in sarcoplasmic reticulum of cardiomyocytes
KCNE1	176261	LQT5	613695	AD	Modulates gating kinetics and enhances stability of voltage-gated K+ channel complex
		JLNS2	612347	AR
KCNE2	603796	LQT6	613693	AD	Modulates gating kinetics and enhances stability of voltage-gated K+ channel complex
KCNJ2	600681	LQT7	170390	AD	Establishes neuron and muscle action potentials and excitability
CACNA1C	114205	LQT8	601005	AD	Pore-forming, alpha-1C subunit of voltage- gated Ca2+ channel
CAV3	601253	LQT9	611818	AD	Regulates voltage-gated K+ channels
SCN4B	608256	LQT10	611819	AD	Interacts with voltage-gated alpha subunits to change Na+ channel kinetics
AKAP9	604001	LQT11	611820	AD	Effector in regulating K+ channel
SNTA1	601017	LQT12	612955	AD	Interacts with pore-forming alpha subunit of cardiac Na+ channel
KCNJ5	600734	LQT13	613485	AD	Allows K+ flow into cells
CALM1	114180	LQT14	616247	AD	Mediates ion channel control
CALM2	114182	LQT15	616249	AD	Mediates ion channel control
CALM3	114183	LQT	/	AD	Mediates ion channel control

AD=autosomal dominant; AR=autosomal recessive; JLNS=Jervell and Lange-Nielsen syndrome