GRN-related frontotemporal lobar degeneration with Tdp43 inclusions: genes and variants
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions is linked to 1 analyzed protein (GRN). 4 DNA variants are known to cause it; 241 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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
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.
4 disease-causing and 241 uncertain variants in GRN are linked to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions.
Known disease-causing variants in GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GRN A9D | 9 | Disease-causing (★★) | |
| GRN M1T | 1 | Disease-causing (★) | |
| GRN M1V | 1 | Disease-causing (★) | |
| GRN M1I | 1 | Disease-causing |
Diseases related to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
- Alzheimer disease, also linked to GRN
- Frontotemporal dementia, also linked to GRN
- Neuronal ceroid lipofuscinosis, also linked to GRN
- Dementia, also linked to GRN
- Parkinsonian disorder, also linked to GRN
Frequently asked questions
Which genes are linked to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions?
In CATVariant, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions is linked to 1 analyzed protein: GRN (Progranulin).
How many genetic variants are linked to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions?
276 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 241 are of uncertain significance or have conflicting reports.
Which uncertain variants in GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center