Table 2.
Patient | Age of onset (years) | Patient group | Gene variant | Class | Applied ACMG criteriaa |
---|---|---|---|---|---|
P006 | 41 | EOPD | GBA NM_000157.4:c.1226A > G | P | PS3, PM2, PM3_VSTR, PP2 |
P012 | 57 | FPD | |||
P014 | 68 | ||||
P015 | 69 | ||||
P002 | 32 | EOPD | GBA NM_000157.4:c.1448T > C | P | PS3, PM2, PM3_VSTR, PP2 |
P003 | 46 | ||||
P013 | 59 | FPD | |||
P007 | 43 | EOPD | GBA NM_000157.4:c.586A > C | LP | PS3, PM2, PM3, PP2 |
P001 | 49 | ||||
P011 | 51 | FPD | |||
P005 | 36 | EOPD | GBA NM_000157.4:c.1289C > T | P | PS3, PM2, PM3_STR, PP2 |
P004 | 50 | ||||
P010 | 50 | FPD | GBA NM_000157.4:c.1090G > A | P | PS3_MOD, PM2, PM3_STR, PM5_SUP, PP2 |
P009 | 36 | FPD | GBA NM_000157.4:c.115 + 1G > A | P | PVS1, PM2, PM3_VSTR |
P008 | 34 | EOPD | PARK2 NM_004562.3:c.823C > T | P | PS3, PM2, PM3_VSTR, PP2 |
PARK2 Exon 5 deletion | LP | PVS1_MOD, PM3_STR, PM2 |
P pathogenic, LP likely pathogenic, EOPD sporadic early-onset PD, FPD familial PD,
aACMG criteria modifiers = very strong (VSTR), strong (STR), moderate (MOD), or supporting (SUP).