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HOXA13 / HFG-I -critria-update#446

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hdashnow merged 4 commits into
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HOXA13_HFG-II-critria-update
May 23, 2026
Merged

HOXA13 / HFG-I -critria-update#446
hdashnow merged 4 commits into
mainfrom
HOXA13_HFG-II-critria-update

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@elbayaliyev

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Updated the HOXA13 / HFG-II criTRia entry by adding a root-level description and improving curator-facing evidence details for supported genetic and experimental evidence rows.

Fixes: # Link to any relevant issues and/or discussions

Major Changes

  • Added a concise disease/locus description for HOXA13 / HFG-II, summarizing the heterozygous 18 bp in-frame duplication in the second HOXA13 polyalanine tract and the supporting human evidence.
  • Updated genetic evidence details for:
    • Probands
    • Segregation
  • Added clearer experimental evidence detail for the Non-human model organism row, noting that the mouse model evidence is gene-level and not HFG-II-locus-specific.

Minor Changes

  • Replaced vague or missing evidence details with concise curator-style descriptions.
  • Preserved all existing scores, evidence rows, category summaries, supercategory summaries, total score, classification, publication count, and publication interval.
  • Left unsupported/unclear experimental evidence rows blank for curator review rather than changing scores or evidence structure.
    HOXA13 / HFG-II curator review needed #445

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 force-pushed the HOXA13_HFG-II-critria-update branch from 3cfbcb6 to 00ada4c Compare May 23, 2026 16:58
@hdashnow hdashnow merged commit eab4ae5 into main May 23, 2026
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@hdashnow hdashnow deleted the HOXA13_HFG-II-critria-update branch May 23, 2026 17:06
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HOXA13 / HFG-II curator review needed

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