This page lists what the sources opened say about available data. It is not a catalogue, and access terms change, so check with each custodian. The gnomAD about page could not be read (it returned no content), so current gnomAD release sizes and terms are not stated here.
What population genetic data exist for PRNP?
Minikel and colleagues (Science Translational Medicine, 2016) combined 16,025 prion disease cases from national surveillance centres in Australia, France, Germany, Italy, Japan, the Netherlands, the United Kingdom and the United States, about 65 percent with PRNP open reading frame sequencing, with two control sets. One was 60,706 exomes from the Exome Aggregation Consortium (ExAC), ascertained for common diseases and not for neurodegeneration. The other was summary counts from 531,575 consenting 23andMe customers, pruned for close relatives.
The authors report that at most about 29 per million people should carry fully penetrant causal variants, which predicts about 1.7 carriers in ExAC and about 15 in 23andMe. They observed 52 ExAC individuals with reportedly pathogenic missense variants, and 141 alleles across 16 such variants in 23andMe, an excess of at least 30-fold. Much of the excess came from variants with weak prior evidence of pathogenicity. They describe P102L, A117V, D178N and E200K as strongly supported and rare in controls, and V180I, V210I and M232R as intermediate, with estimated lifetime penetrance of roughly 0.1 to 10 percent. Some N-terminal truncating variants appeared in healthy older ExAC individuals. This is a population analysis and says nothing about any individual’s risk. See penetrance.
What can be downloaded?
- ExAC data are publicly released on the Broad Institute site, per the paper.
- Analysis code, figure source files and tab-delimited supplementary tables are on GitHub, per the paper. The ExAC variants retained in the analysis have IGV screenshots there.
- 23andMe data appear only as summary allele counts in the supplement, with counts of 1 to 5 rounded up to 5 for privacy.
- Case data are summarised in supplementary tables. The paper does not describe release of individual-level case data.
What do surveillance centres publish?
The National Prion Disease Pathology Surveillance Center says it publishes annual national data on referrals, confirmed cases and diagnostic classifications, and lists biospecimen and data requests among its programmes. The page read does not give the figures or request terms.
What about trial data?
The Prion Alliance’s update of 16 July 2026 says it commits to sharing individual patient data from the PRiSM trial and general learnings, and that FDA regulatory documents are already public. It gives no timetable, format or access process.
What is not known?
Not covered are national registry data requests, the NIBSC and brain bank sample inventories, imaging datasets, and sequence or structure databases. See biobanks, models and the resources hub.