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Update Literature (October) - #535

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gaberbz wants to merge 17 commits into
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update-data-October
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gaberbz wants to merge 17 commits into
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update-data-October

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@gaberbz

@gaberbz gaberbz commented Oct 30, 2026

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Please edit this description as you work on this PR

Description

This PR introduces changes from automated literature retrieval followed by manual curation.

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

Major Changes

-Changed OPDM1_LRP12 pathogenic threshold to 50
-Lowered min age of onset in SCA37 to 15
-Updated SCA37_DAB1 pathogenic max to 103
-Changed SCA1_ATXN1 age of onset to 3-67

Minor Changes

  • Added evidence against AD or FTD association NIID_NOTCH2NLC
  • Added different phenotype from shorter expansion OPDM1_LRP12
  • Explained genotyper error in XDP_TAF1
  • Added prevalence in Spain and a german family to SCA37
  • Outlined SCA4_ZFHX3 interruptions
  • Explained that SCA4_ ZFHX3 length and purity are both relevant to pathogenicity
  • Explained how RP-PCR can detect SCA36_NOP56 expansions but not determine if pathogenic threshold is reached

Checklist

  • Check I've included all literature since the last "Literature Update" PR (may need to diff against an earlier version)
  • Check for updates to existing loci
  • Check for potential new loci
  • Add any changes to STRchive-loci.json as commits to this branch/PR
  • If anything needs to be discussed further before adding to STRchive, add it to Discussions
  • Check all tests pass e.g. the website built
  • 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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2 participants