Table 2 Causative pathogenic and likely pathogenic variants.

From: A multicenter study of genetic testing for Parkinson’s disease in the clinical setting

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

  1. P pathogenic, LP likely pathogenic, EOPD sporadic early-onset PD, FPD familial PD,
  2. aACMG criteria modifiers = very strong (VSTR), strong (STR), moderate (MOD), or supporting (SUP).