Summary of penetrance analyses
Analysis performed | Number of studies | Number of patients | Pooled estimate (95% CI) | p value |
Adult* | ||||
Penetrance, overall | 46 | 3474 | 62% (55% to 69%) | – |
Probands included | 18 | 1436 | 73% (65% to 79%) | <0.01 |
Probands excluded | 31 | 2557 | 55% (46% to 64%) | |
Paediatric | ||||
Penetrance, overall | 5 | 803 | 24% (10% to 47%) | – |
Probands included | 1 | 98 | 61% | – |
Probands excluded | 4 | 705 | Range: 7% to 48% | – |
Adult and paediatric | ||||
MYBPC3 | 17 | 1273 | 65% (59% to 71%) | – |
MYH7 | 4 | 121 | 76% (57% to 88%) | – |
TNNT2 | 4 | 187 | 77% (70% to 82%) | – |
TNNI3 | 2 | 109 | Range: 48% to 56% | – |
ACTC1 | 2 | 60 | Range: 89% to 100% | – |
*Predominantly adult.