Parkinsonian disorder: genes and variants
Parkinsonian disorder is linked to 1 analyzed protein (GRN). 1 DNA variants are known to cause it; 6 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 Parkinsonian disorder
GRN: Progranulin
It is secreted and proteolytically processed into granulins and has roles in lysosomal function, inflammation, neuronal survival, and tissue repair. Heterozygous loss-of-function variants cause frontotemporal dementia through progranulin haploinsufficiency, while biallelic loss causes neuronal ceroid lipofuscinosis.
1 disease-causing and 0 uncertain variants in GRN are linked to Parkinsonian disorder.
Weakly linked (only a few uncertain records): GBA1, LRRK2, CSF1R, MRE11 and PDGFRB.
Known disease-causing variants in Parkinsonian disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GRN T18A | 18 | Disease-causing |
Diseases related to Parkinsonian disorder
- Alzheimer disease, also linked to GRN
- Frontotemporal dementia, also linked to GRN
- Neuronal ceroid lipofuscinosis, also linked to GRN
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, also linked to GRN
- Dementia, also linked to GRN
Frequently asked questions
Which genes are linked to Parkinsonian disorder?
In CATVariant, Parkinsonian disorder is linked to 1 analyzed protein: GRN (Progranulin).
How many genetic variants are linked to Parkinsonian disorder?
8 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Parkinsonian disorder 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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