Table 4.
Relative contribution of homozygous variants for validated autosomal dominant HCM genes
| Variants with gnomAD FAFpopmax ≤ 4 × 10−5 | Additional variants with gnomAD FAFpopmax ≤ 0.00126 | Total hom freq (count/total) | |||
|---|---|---|---|---|---|
| Gene/gene groups | Total no. of patients | Hom case freq (count) | Total no. of patients | Hom case freq (count) | |
| MYH7 | 99 | 6.1% (6) | 5 | 0% | 5.8% (6/104) |
| MYBPC3 | 85 | 5.9% (5) | 45 | 8.9% (4) | 6.9% (9/130) |
| CSRP3 | 15 | 33.3% (5) | 0 | 0% | 33.3% (5/15) |
| Myosin light chain | 28 | 14.3% (4) | 11 | 54.5% (6) | 25.6% (10/39) |
| Thin filament | 18 | 5.6% (1) | 8 | 0% | 3.8% (1/26) |
| ACTN2 | 12 | 0% | 8 | 0% | 0% (0/20) |
| JPH2 | 14 | 0% | 4 | 25% (1) | 5.6% (1/18) |
| PLN | 0 | 0% | 0 | 0% | 0% |
For genes with an excess burden of rare variants in Egypt HCM patients vs. UK (Table 2). The relative contribution of rare (gnomAD FAFpopmax ≤ 4 × 10−5) homozygous variants under dominant HCM model (left) as well as of additional variants under recessive inheritance model (gnomAD FAFpopmax ≤ 0.00126) (right) are shown. MLC comprises MYL2 and MYL3. Thin filament comprises ACTC1, TNNC1, TNNI3, TNNT2, and TPM1.