Main causative genes of hypertrophic cardiomyopathy (HCM)
| Sarcomeric proteins | Gene | Gene prevalence in HCM probands | |
|---|---|---|---|
| Myosin-binding protein C | MYPBC3 | 15% | |
| Beta myosin heavy chain | MYH7 | 15% | |
| Cardiac troponin T | TNNT2 | 7% | |
| Alpha-tropomyosin | TPM1 | 7% | |
| Regulatory myosin light chain | MYL2 | < 5% | |
| Essential myosin light chain | MYL3 | < 5% | |
| Cardiac troponin I | TNNI3 | < 5% | |
| Nonsarcomeric proteins | Gene | Inheritance | Associated phenotype |
| Transthyretin | TTR | Dominant; 1%–10% | Amyloidosis |
| Lysosome-associated membrane glycoprotein 2 | LAMP2 | X-linked; rare | Danon disease |
| Alpha-galactosidase A | GLA | X-linked; 1%–2% of males | Fabry disease |
| Lysosomal alpha-glucosidase | GAA | Recessive; rare | Pompe disease |
| Frataxin | FXN | Recessive; rare | Friedrich ataxia |
Based on information in reference 3.