Table 1.
Demographic characteristics of 1563 cardiomyopathy probands in the 100,000 Genome Project (100KGP)
| All probands (n = 1563) | Paediatric probands (n = 273) | Adult probands (n = 1290) | ||
|---|---|---|---|---|
| n (%) | n (%) | n (%) | ||
| Sex | Female | 589 (38) | 115 (42) | 474 (37) |
| Male | 974 (62) | 158 (58) | 816 (63) | |
| Ancestry (self-reported) | Asian | 105 (7) | 32 (14a) | 73 (7a) |
| Black | 53 (3) | 10 (4a) | 43 (4a) | |
| White | 1070 (68) | 180 (77a) | 890 (85a) | |
| Mixed | 21 (1) | < 10 | < 20 | |
| Other | 30 (2) | < 10 | < 30 | |
| Not stated | 284 (18) | 39 (14) | 245 (19) | |
| Family history | Yes | 659 (42) | 95 (35) | 564 (44) |
| No | 904 (58) | 178 (65) | 726 (56) | |
| Primary CM | ARVC | 126 (8) | 9 (3) | 117 (9) |
| DCM | 383 (25) | 54 (20) | 329 (26) | |
| HCM | 794 (51) | 92 (34) | 702 (54) | |
| LVNC | 50 (3) | 19 (7) | 31 (2) | |
| Mixed_CM | < 20 | < 10 | < 10 | |
| Mixed_other | < 20 | < 10 | < 10 | |
| Complex CM | 195 (12) | 93 (34) | 102 (8) | |
Primary CM: probands recruited under a specific cardiomyopathy disease category
Complex CM: probands recruited under a non-cardiomyopathy disease category with a human phenotype ontology (HPO) term containing ‘cardiomyopathy’
Counts <5 must be masked when exporting data from the 100KGP research environment. Smaller values are therefore given as ranges, e.g. <5, and percentages in these instances are not reported
Family history is recorded as ‘Yes’ if either a parent or a sibling is recorded as affected with the same condition as the proband
ARVC Arrhythmogenic right ventricular cardiomyopathy, DCM Dilated cardiomyopathy, HCM Hypertrophic cardiomyopathy, LVNC Left ventricular non-compaction cardiomyopathy, Mixed_CM, probands recruited under more than one cardiomyopathy specific category, e.g. hypertrophic cardiomyopathy and left ventricular non-compaction cardiomyopathy, Mixed_other, participants recruited under a cardiomyopathy disease category and at least one other non-cardiomyopathy category, e.g. hypertrophic cardiomyopathy and corneal abnormalities
a% of known self-reported ancestry, excluding those where ancestry is not stated