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GIPC1_OPDM2-critria-update#413

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hdashnow merged 2 commits into
curation-detailsfrom
GIPC1_OPDM2-critria-update
May 14, 2026
Merged

GIPC1_OPDM2-critria-update#413
hdashnow merged 2 commits into
curation-detailsfrom
GIPC1_OPDM2-critria-update

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@elbayaliyev

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Description

Updated the GIPC1_OPDM2 criTRia curation by improving the root-level Description and replacing vague or null Evidence detail fields with concise, source-supported curator text.

Fixes: # Link to relevant issue/discussion

Major Changes

  • None

Minor Changes

  • Updated the OPDM2/GIPC1 root-level Description to summarize the locus-disease relationship.

  • Refined genetic evidence details for:

    • pmid:32413282
    • pmid:33374016
    • pmid:39492694
  • Added experimental evidence details for:

    • pmid:39936620 — HSPB1 rescue in poly-G/autophagy cell models
    • pmid:39418922 — patient tissue/cell pathology with p62-positive intranuclear inclusions
    • pmid:35152460 — GIPC1 repeat-specific patient fibroblast regulatory/functional findings
  • Added curator-review language where evidence was locus-specific but not fully OPDM2-specific or where the source did not fully match the original row wording.

  • No scores, evidence rows, summaries, classification, publication counts, or schema fields were changed.

Checklist

  • All changes are well summarized
  • Check all tests pass
  • Check that the website preview looks good
  • Update the STRchive version in CITATION.cff, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X.
  • Ask someone to review this PR

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@hdashnow hdashnow changed the base branch from main to curation-details May 14, 2026 21:48
@hdashnow hdashnow merged commit d0d4e0a into curation-details May 14, 2026
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@hdashnow hdashnow deleted the GIPC1_OPDM2-critria-update branch May 14, 2026 21:48
hdashnow pushed a commit that referenced this pull request May 15, 2026
## Description

Updated the `GIPC1_OPDM2` criTRia curation by improving the root-level
`Description` and replacing vague or null `Evidence detail` fields with
concise, source-supported curator text.

Fixes: # **Link to relevant issue/discussion**

## Major Changes

* None

## Minor Changes

* Updated the OPDM2/GIPC1 root-level `Description` to summarize the
locus-disease relationship.
* Refined genetic evidence details for:

  * `pmid:32413282`
  * `pmid:33374016`
  * `pmid:39492694`
* Added experimental evidence details for:

  * `pmid:39936620` — HSPB1 rescue in poly-G/autophagy cell models
* `pmid:39418922` — patient tissue/cell pathology with p62-positive
intranuclear inclusions
* `pmid:35152460` — GIPC1 repeat-specific patient fibroblast
regulatory/functional findings
* Added curator-review language where evidence was locus-specific but
not fully OPDM2-specific or where the source did not fully match the
original row wording.
* No scores, evidence rows, summaries, classification, publication
counts, or schema fields were changed.

## Checklist

* [x] All changes are well summarized
* [ ] Check all tests pass
* [ ] Check that the website preview looks good
* [ ] Update the STRchive version in `CITATION.cff`, format X.Y.Z. If
any major changes, increment Y. If only minor changes, increment Z. If
the breaking change (rare), increment X.
* [ ] Ask someone to review this PR

---------

Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
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2 participants