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. 2022 Nov 4;8:149. doi: 10.1038/s41531-022-00408-6

Table 2.

Causative pathogenic and likely pathogenic variants.

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).