Table 1.
Causal genes for hypertrophic cardiomyopathy
| Gene | Symbol | Chromosome | Frequency |
|---|---|---|---|
| Established causal genes | |||
| β-Myosin heavy chain | MYH7 | 14q1 | ~25–30% |
| Myosin binding protein-C | MYBPC3 | 11q1 | ~ 25–30% |
| Cardiac troponin T | TNNT2 | 1q3 | ~3–5% |
| Cardiac troponin I | TNNI3 | 19p13.2 | ~3–5% |
| α-Tropomyosin | TPM1 | 15q1 | ~1% |
| Myozenin 2 | MYOZ2 | 4q25–26 | 1 : 250 |
| Myosin light chain 1 | MYL3 | 3p | Rare |
| Myosin light chain 2 | MYL2 | 12q | Rare |
| α-Cardiac actin | ACTC1 | 15q11 | Rare |
| Titin | TTN | 2q13–33 | Rare |
| Telethonin | TCAP | 17q12 | Rare |
| Possible causal genes | |||
| Myosin light chain kinase 2 | MYLK2 | 20q13.3 | Rare |
| α-Myosin heavy chain | MYH6 | 14q12 | Rare |
| Cardiac troponin C | TNNC1 | 3p21 | Rare |
| Caveolin 3 | CAV3 | 3p25 | Rare |
| Phospholamban | PLN | 6p22.1 | Rare |
| Calreticulin | CALR3 | 19p13.11 | Rare |
| Junctophilin-2 | JPH2 | 20q13.12 | Rare |
| Mitochondrial tRNAs | MTTG, MTTI | Mitochondrial DNA | Rare |