Long QT syndrome
Genetics

Long QT syndrome

Section Title: Genetics
Table Section Text: None

Type	OMIM	Gene	Notes

LQT1	192500	KCNQ1	Encodes the α-subunit of the slow delayed rectifier potassium channel KV7.1 carrying the potassium current IKs.

LQT2	152427	KCNH2	Also known as hERG. Encodes the α-subunit of the rapid delayed rectifier potassium channel KV11.1 carrying the potassium current IKr.

LQT3	603830	SCN5A	Encodes the α-subunit of the cardiac sodium channel NaV1.5 carrying the sodium current INa.

LQT4	600919	ANK2	Encodes Ankyrin B which anchors the ion channels in the cell. Disputed true association with QT prolongation.

LQT5	176261	KCNE1	Encodes MinK, a potassium channel β-subunit.

LQT6	603796	KCNE2	Encodes MiRP1, a potassium channel β-subunit.

LQT7	170390	KCNJ2	Encodes inward rectifying potassium current Kir2.2 carrying the potassium current IK1. Causes Andersen-Tawil syndrome.

LQT8	601005	CACNA1c	Encodes the α-subunit CaV1.2 of the calcium channel Cav1.2 carrying the calcium current ICa(L). Causes Timothy syndrome.

LQT9	611818	CAV3	Encodes Caveolin-3, responsible for forming membrane pouches known as caveolae. Mutations in this gene may increase the late sodium current INa.

LQT10	611819	SCN4B	Encodes the β4-subunit of the cardiac sodium channel.

LQT11	611820	AKAP9	Encodes A-kinase associated protein which interacts with KV7.1.

LQT12	601017	SNTA1	Encodes syntrophin-α1. Mutations in this gene may increase the late sodium current INa.

LQT13	600734	KCNJ5	Also known as GIRK4, encodes G protein-sensitive inwardly rectifying potassium channels (Kir3.4) which carry the potassium current IK(ACh).

LQT14	616247	CALM1	Encodes calmodulin-1, a calcium-binding messenger protein that interacts with the calcium current ICa(L).

LQT15	616249	CALM2	Encodes calmodulin-2, a calcium-binding messenger protein that interacts with the calcium current ICa(L).

LQT16	114183	CALM3	Encodes calmodulin-3, a calcium-binding messenger protein that interacts with the calcium current ICa(L).

Sentence(s)

LQT16 is caused by the CALM3 (Calmodulin 3) gene (114183).

final_sentence: LQT16 is caused by the CALM3 (Calmodulin 3) gene (114183).