| LONG QT SYNDROME |
|
|
| Major LQTS Genes |
|
|
|
KCNQ1 (LQT1) |
11p15.5 |
IKs potassium channel alpha subunit (KVLQT1, KV7.1) |
|
KCNH2 (LQT2) |
7q35-36 |
IKr potassium channel alpha subunit (HERG, KV11.1) |
|
SCN5A (LQT3) |
3p21-p24 |
Cardiac sodium channel alpha subunit (NaV1.5) |
|
Minor LQTS Genes (listed alphabetically) |
|
|
| AKAP9 |
7q21-q22 |
Yotiao |
| CACNA1C |
12p13.3 |
Voltage gated L-type calcium channel (CaV1.2) |
| CALM1 |
14q32.11 |
Calmodulin 1 |
| CALM2 |
2p21.3-p21.1 |
Calmodulin 2 |
| CAV3 |
3p25 |
Caveolin-3 |
| KCNE1 |
21q22.1 |
Potassium channel beta subunit (MinK) |
| KCNE2 |
21q22.1 |
Potassium channel beta subunit (MiRP1) |
| KCNJ5 |
11q24.3 |
Kir3.4 subunit of IKACH channel |
| SCN4B |
11q23.3 |
Sodium channel beta 4 subunit |
| SNTA1 |
20q11.2 |
Syntrophin-alpha 1 |
| ANDERSEN-TAWIL SYNDROME |
|
KCNJ2 (ATS1) |
17q23 |
IK1 potassium channel (Kir2.1) |
| ANKYRIN-B SYNDROME |
| ANKB |
4q25-q27 |
Ankyrin B |
| TIMOTHY SYNDROME |
|
|
|
CACNA1C (TS) |
12p13.3 |
Voltage gated L-type calcium channel (CaV1.2) |
| CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA |
|
RYR2 (CPVT1) |
1q42.1-q43 |
Ryanodine Receptor 2 |
|
CASQ2 (CPVT2) |
1p13.3 |
Calsequestrin 2 |
|
KCNJ2 (CPVT3) |
17q23 |
IK1 potassium channel (Kir2.1) |
| CALM1 |
14q32.11 |
Calmodulin 1 |
| TRDN |
6q22.31 |
Triadin |
| BRUGADA SYNDROME |
|
SCN5A (BrS1) |
3p21-p24 |
Cardiac sodium channel alpha subunit (NaV1.5) |
|
Minor BrS Genes (listed alphabetically) |
|
|
| CACNA1C |
2p13.3 |
Voltage gated L-type calcium channel (CaV1.2) |
| CACNA2D1 |
7q21-q22 |
Voltage gated L-type calcium channel 2 delta 1 subunit |
| CACNB2 |
10p12 |
Voltage gated L-type calcium channel beta 2 subunit |
| DLG1 |
3q29 |
Synapse-associated protein 97 |
| GPD1L |
3p22.3 |
Glycerol-3-phosphate dehydrogenase 1-like |
| HCN4 |
15q24.1 |
Hyperpolarization-activated cyclic nucleotide-gated channel 4 |
| KCND3 |
1p13.2 |
Voltage-gated potassium channel (Ito) subunit Kv4.3 |
| KCNE3 |
11q13.4 |
Potassium channel beta subunit 3 (MiRP2) |
| KCNE5 |
Xq22.3 |
Potassium channel beta subunit 5 |
| KCNJ8 |
12p12.1 |
Inward rectifier K(+) channel Kir6.1 |
| MOG1 |
17p13.1 |
RAN guanine nucleotide release factor 1 |
| SCN1B |
19q13 |
Sodium channel beta 1 |
| SCN3B |
11q24.1 |
Sodium channel beta 3 |
| S LMAP |
3p14.3 |
Sarcolemma associated protein |
