Table 2:
Gene defects associated with Early Repolarization (ERS) and Brugada (BrS) syndromes.
| Genetic Defects Associated with ERS | ||||
|---|---|---|---|---|
| Locus | Gene/Protein | Ion Channel | ||
| ERS1 | 12p11.23 | KCNJ8, Kir6.1 | ↑IK-ATP | |
| ERS2 | 12p13.3 | CACNA1C, Cav1.2 | ↓ ICa | |
| ERS3 | 10p12.33 | CACNB2b, Cavß2b | ↓ ICa | |
| ERS4 | 7q21.11 | CACNA2D1, Cava2d1 | ↓ ICa | |
| ERS5 | 12p12.1 | ABCC9, SUR2A | ↑ IK-ATP | |
| ERS6 | 3p21 | SCN5A, Nav1.5 | ↓ INa | |
| ERS7 | 3p22.2 | SCN10A, Nav1.8 | ↓ INa | |
| ERS8 | 7q35 | KCNH2, hERG | ↑ IKr | |
| ERS9 | 19q13.1 | SCN1Bβ, Navβ1 | ↑ Ito | |
| ERS10 | 1p13.2 | KCND3, Kv4.3 | ↑ Ito | |
| Genetic Defects Associated with BrS | ||||
| Locus | Gene/Protein | Ion Channel | ||
| BrS1 | 3p21 | SCN5A, Nav1.5 | ↓ INa | |
| BrS2 | 3p24 | GPD1L | ↓ INa | |
| BrS3 | 12p13.3 | CACNA1C, Cav1.2 | ↓ ICa | |
| BrS4 | 10p12.33 | CACNB2b, Cavß2b | ↓ ICa | |
| BrS5 | 19q13.1 | SCN1B, Navß1 | ↓ INa | |
| BrS6 | 11q13-14 | KCNE3, MiRP2 | ↑ Ito | |
| BrS7 | 11q23.3 | SCN3B, Navß3 | ↓ INa | |
| BrS8 | 12p11.23 | KCNJ8, Kir6.1 | ↑ IK-ATP | |
| BrS9 | 7q21.11 | CACNA2D1, Cav a2d1 | ↓ ICa | |
| BrS10 | 1p13.2 | KCND3, Kv4.3 | ↑ Ito | |
| BrS11 | 17p13.1 | RANGRF, MOG1 | ↓ INa | |
| BrS12 | 3p21.2-p14.3 | SLMAP | ↓ INa | |
| BrS13 | 12p12.1 | ABCC9, SUR2A | ↑ IK-ATP | |
| BrS14 | 11q23 | SCN2B, Navß2 | ↓ INa | |
| BrS15 | 12p11 | PKP2, Plakophillin-2 | ↓ INa | |
| BrS16 | 3q28 | FGF12, FHAF1 | ↓ INa | |
| BrS17 | 3p22.2 | SCN10A, Nav1.8 | ↓ INa | |
| BrS18 | 6q | HEY2 (transcriptional factor) | ↑ INa | |
| BrS19 | 1p36.3 | KCNAB2, Kvβ2 | ↑ Ito | |
| BrS20 | 7q31.1 | TMEM168, trans-membrane | ↓ INa | |
| BrS21 | 3q29 | SLG1/SAP97 | ↑ Ito | |
| BrS22 | 17q12 | TCAP- Z-disk cytoskeletal protein | ↓ INa | |
| BrS23 | 1p13.3 | GSTM3 - Glutathione S-transferase transferase | ↓ INa | |
Listed in Chronological order of discovery. Modified from (133), with permission.