PRNP_CJD-critria-update#371
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Description Updated the existing PRNP_CJD criTRia JSON entry to improve curator-facing evidence descriptions and add a root-level disease/locus summary. The changes clarify that PRNP octapeptide repeat insertions in the exon 2/N-terminal coding repeat region are associated with autosomal dominant genetic CJD/inherited prion disease, and they replace null or vague evidence details with concise source-specific summaries. The original scores, evidence rows, schema, summaries, classification, publication count, and publication interval were preserved. Fixes: # Link to any relevant issues and/or discussions Major Changes None Minor Changes Added root-level Description for PRNP_CJD. Updated existing evidence details for: Probands citing pmid:29887139 Segregation citing pmid:1683708 Biochemical function citing pmid:37379724 Protein interaction citing pmid:29939637 Regulatory Impact citing pmid:36977684; pmid:38467784; pmid:1683708 Clarified that the Protein interaction evidence is gene-level rather than OPRI-specific. Flagged the Regulatory Impact row for curator review because the uploaded sources do not support PRNP OPRI-specific epigenetic, splicing, or expression-regulatory evidence. No scores, evidence categories, total score, classification, or publication metadata were changed. Original score/classification values are unchanged from the prior JSON. --------- Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
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Description
Updated the existing PRNP_CJD criTRia JSON entry to improve curator-facing evidence descriptions and add a root-level disease/locus summary. The changes clarify that PRNP octapeptide repeat insertions in the exon 2/N-terminal coding repeat region are associated with autosomal dominant genetic CJD/inherited prion disease, and they replace null or vague evidence details with concise source-specific summaries. The original scores, evidence rows, schema, summaries, classification, publication count, and publication interval were preserved.
Fixes: # Link to any relevant issues and/or discussions
Major Changes
None
Minor Changes
Added root-level Description for PRNP_CJD.
Updated existing evidence details for:
Probands citing pmid:29887139
Segregation citing pmid:1683708
Biochemical function citing pmid:37379724
Protein interaction citing pmid:29939637
Regulatory Impact citing pmid:36977684; pmid:38467784; pmid:1683708
Clarified that the Protein interaction evidence is gene-level rather than OPRI-specific.
Flagged the Regulatory Impact row for curator review because the uploaded sources do not support PRNP OPRI-specific epigenetic, splicing, or expression-regulatory evidence.
No scores, evidence categories, total score, classification, or publication metadata were changed. Original score/classification values are unchanged from the prior JSON.