Table 2.
Phenotype counts of all non-locally-restricted samples from GP2’s 7th data release with visually-confirmed deletions in genes of interest. Proportions of the total population are included in parentheses per diagnosis. “VaPD” stands for Vascular Parkinsonism.
| Diagnosis | Total Population | PRKN | LINGO2 | APP |
|---|---|---|---|---|
| PD | 23,089 | 236 (1.0%) | 162 (0.7%) | 7 (0.03%) |
| Control | 13,366 | 91 (0.7%) | 119 (0.9%) | 5 (0.03%) |
| Population Control | 5,458 | 25 (0.5%) | 35 (0.6%) | 0 |
| PSP | 760 | 7 (0.9%) | 2 (0.3%) | 0 |
| Other | 382 | 2 (0.5%) | 2 (0.5%) | 0 |
| DLB | 296 | 1 (0.3%) | 2 (0.7%) | 0 |
| Mix | 252 | 1 (0.4%) | 6 (2.4%) | 0 |
| MSA | 243 | 4 (1.6%) | 0 | 0 |
| Prodromal | 120 | 0 | 1 (0.8%) | 0 |
| AD | 114 | 1 (0.9%) | 0 | 0 |
| LBD | 75 | 0 | 0 | 0 |
| Undetermined-MCI | 71 | 1 (1.4%) | 0 | 0 |
| Undetermined-Dementia | 27 | 0 | 0 | 0 |
| CBD/CBS | 23 | 0 | 0 | 0 |
| FTD | 3 | 0 | 0 | 0 |
| VaPD | 1 | 0 | 0 | 0 |
| Total | 44,280 | 369 | 329 | 12 |