Early-onset Parkinson disease 20: genes and variants
Early-onset Parkinson disease 20 is linked to 1 analyzed protein (SYNJ1). 3 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Early-onset Parkinson disease 20
SYNJ1: Polyphosphatidylinositol phosphatase SYNJ1
It remodels phosphoinositides during clathrin-mediated synaptic-vesicle recycling and helps nerve terminals rapidly regenerate release-ready vesicles. Biallelic pathogenic variants can cause early-onset parkinsonism or severe developmental and epileptic encephalopathy.
3 disease-causing and 2 uncertain variants in SYNJ1 are linked to Early-onset Parkinson disease 20.
Known disease-causing variants in Early-onset Parkinson disease 20
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SYNJ1 R219Q | 219 | SAC | Disease-causing (★★★★) |
| SYNJ1 R800C | 800 | 5-PPase | Disease-causing (★) |
| SYNJ1 R420P | 420 | SAC | Disease-causing |
Diseases related to Early-onset Parkinson disease 20
- Young-onset Parkinson disease, also linked to SYNJ1
- Genetic developmental and epileptic encephalopathy, also linked to SYNJ1
Frequently asked questions
Which genes are linked to Early-onset Parkinson disease 20?
In CATVariant, Early-onset Parkinson disease 20 is linked to 1 analyzed protein: SYNJ1 (Polyphosphatidylinositol phosphatase SYNJ1).
How many genetic variants are linked to Early-onset Parkinson disease 20?
7 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Early-onset Parkinson disease 20 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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