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. 2020 Aug 6;40(6):2650–2681. doi: 10.1002/med.21718

Table 1.

Parkinson's disease related genes and phenotypes

PARK symbol Gene locus Gene Phenotype Inheritance pattern Penetrance Presence of Lewy bodies Clinical features
Confirmed causative genes
PARK1 and 4 4q21 SNCA EOPD AD 40% (duplication); 85% (A53T) Yes Rapid progression; high prevalence of dementia and psychiatric complications 15
PARK2 6q26 Parkin EOPD AR 100% No Slow progression; frequent motor fluctuations; high prevalence of dystonia 16
PARK6 1p36 PINK1 EOPD AR 100% One case Slow progression; good response to levodopa 17
PARK7 1p36 DJ1 EOPD AR 100% Unknown Slow progression; good response to levodopa 15
PARK8 12q12 LRRK2 LOPD AD 32%–75% (G2019S) Yes Slow progression; low prevalence of dementia and psychiatric disturbances 18 , 19
PARK9 1p36 ATP13A2 EOPD AR Incomplete, age‐associated Unknown Kufor–Rakeb syndrome; rapid progression 15
PARK14 22q13.1 PLA2G6 EOPD or adult‐onset AR Incomplete Yes Rapidly progressive parkinsonism with dystonia, and cognitive impairment 20
PARK15 22q1 FBXO7 EOPD AR Unknown Unknown Variable phenotypes; classical PD ± pyramidal tracts signs 21
PARK17 16q11.2 VPS35 Classical PD AD Incomplete, age‐associated Yes Parkinsonism; low prevalence of dyskinesia and dystonia 22 , 23
PARK19 1p31.3 DNAJC6 EOPD AR Unknown Unknown Slowly progressive; classic PD with mental retardation and seizures 24 , 25
PARK20 21q22.2 SYNJ1 EOPD AR 100% Unknown Progressive parkinsonism may include seizures, abnormal eye movements, and dystonia 26
Susceptibility genes that need confirmation
PARK5 4p13 UCHL1 Classical PD AD Incomplete Unknown Typical idiopathic PD 15
PARK11 2q37 GIGYF2 LOPD AD Incomplete, age‐associated Unknown Typical idiopathic PD with psychiatric symptoms 27
PARK13 2p12 HTRA2 Classical PD AD Low penetrance Unknown Typical idiopathic PD; good response to levodopa 28
PARK18 3q27.1 EIF4G1 Classical PD AD Incomplete, age‐associated Yes Parkinsonism; mild progression; preserved cognitive function 29
PARK21 3q22 TMEM230 Classical PD AD Incomplete (heterozygous mutations) Yes Slowly progressive asymmetric parkinsonism 30
PARK22 7p11.2 CHCHD2 Classical PD AD Incomplete Unknown Typical idiopathic PD; good response to levodopa 31
Risk factor gene
NA 1q21 GBA NA AD/AR Incomplete, age‐associated Yes Accelerated progression and high risk of cognitive impairment 32 , 33

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; EOPD, early‐onset PD; LOPD, late‐onset PD; NA, not applicable; PD, Parkinson's disease.