Table 3.
Overview of variants in the ROPAD study participants who received positive genetic testing reports owing to findings in genes not related to classical Parkinson’s disease
| Gene | Number of patients who received a report with a PGT finding in respective genes | Percentage of patients tested by gene panel analysis (%) |
|---|---|---|
| Atypical parkinsonism | ||
| ATP13A2 | 1 | 0.01 |
| RAB39B | 1 | 0.01 |
| SYNJ1 | 1 | 0.01 |
| Dystonia–parkinsonism | ||
| GCH1 | 24 | 0.20 |
| C19orf12 | 1 | 0.01 |
| PLA2G6 | 3 | 0.02 |
| Neurodegenerative disorders that may include (atypical) parkinsonism | ||
| PDE8B | 1 | 0.01 |
| PDGFB | 1 | 0.01 |
| PDGFRB | 2 | 0.02 |
| SLC20A2 | 1 | 0.01 |
| Dystonia–parkinsonism + a neurodegenerative disorder that may include (atypical) parkinsonism | ||
| GCH1 + PDE8B | 1 | 0.01 |
| Dystonia/dyskinesia | ||
| GNAL | 3 | 0.02 |
| KMT2B | 1 | 0.01 |
| SGCE | 8 | 0.07 |
| THAP1 | 1 | 0.01 |
| TOR1A | 9 | 0.07 |
| Dementia | ||
| APP | 1 | 0.01 |
| GRN | 18 | 0.15 |
| MAPT | 4 | 0.03 |
| PSEN1 | 2 | 0.02 |
| PSEN2 | 2 | 0.02 |
| Sum | 86 | 0.73 |
PGT = positive genetic testing.