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Diagnostic_Relevance_and_June_Lit#491

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Diagnostic-Relevance-And-June-Lit
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Diagnostic_Relevance_and_June_Lit#491
gaberbz wants to merge 24 commits into
mainfrom
Diagnostic-Relevance-And-June-Lit

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@gaberbz

@gaberbz gaberbz commented Jun 2, 2026

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Description

Summarize the changes

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

Major Changes

-New "Detection" section added to site and schema

  • Added detection info to most loci
  • Changed SCA12_PPP2R2B age of onset max to 62
  • Changed MODY8_CEL mechanism to GoF

Minor Changes

  • Softened age of onset by repeat size correlation
  • Added RAN translated poly(GR) to C9orf72 mechanism
  • Added promoter hypermethylation in expansion carriers to C9orf72 details
  • Added ambiguous late-onset behavioral/psychiatric-like presentations to C9orf72
  • Added reduced C9orf72 expression and altered splicing to C9orf72 mechanism
  • Added distal CEL VNTR insertions as likely benign to MODY8_CEL
  • Added aggregation/UPR effects with preserved lipase activity to MODY8_CEL mechanism
  • Added proximal VNTR single-base deletions in repeats 1, 4, and 5 as most supported pathogenic variants to MODY8_CEL
  •  Added downstream 3′ (TCTG)n block info to DM2_CNBP
  • Added apparently sporadic adult-onset ataxia presentation to FGF14
  • Added French-Canadian enrichment to FGF14 prevalence
  • Updated population-dependent prevalence range for FGF14
  • Added Poland to list of nations for FGF14
  • Added DNA methylation changes in HD-affected striatal tissue to HD_HTT
  • Triangulated r(CUG)n hairpin/1×1 U/U loop mechanism for DM1_DMPK
  • Added subclinical peripheral neuropathy in NIID_NOTCH2NLC.
  • Added possible enrichment in Jewish Bukharian descent to OPMD_PABPN1
  • Added proximal limb to OPMD_PABPN1
    -Changed some DOIs to PMIDs
    -Various spelling and grammar edits to page
    -Added missing references to several loci

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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@gaberbz gaberbz force-pushed the Diagnostic-Relevance-And-June-Lit branch 4 times, most recently from aa73b59 to bec1ff9 Compare June 9, 2026 17:34
gaberbz added 8 commits June 9, 2026 11:56
Update data

Soften claim about age of onset by repeat size correlation

pmid 42096001 found an insignificant correlation between repeat size and age

retrying failed run
minimum OPMD prevalence of 1:600 in this Jewish Bukharian population. Also, added "usually" to autosomal dominant claim because it can be recessive in rare cases, especially when 11/11.
more diagnostic relevance

even more diagnostic relevance
adding single base deletions to MODY_CEL

Add pancreatitis presentation

delete lipase disruption theory and add new details on protein misfolding for MODY8_CEL

adding additional citation

triangulating 3 mechanism papers
@gaberbz gaberbz force-pushed the Diagnostic-Relevance-And-June-Lit branch from bec1ff9 to 9ef64f8 Compare June 9, 2026 17:59
@gaberbz gaberbz force-pushed the Diagnostic-Relevance-And-June-Lit branch from 05019d5 to 883bc95 Compare June 12, 2026 20:43
@gaberbz gaberbz force-pushed the Diagnostic-Relevance-And-June-Lit branch from 883bc95 to 4eb6446 Compare June 12, 2026 21:10
more diagnostic relevance

Add detection section to STRchive loci schema

Added detection section with methods for detecting and sizing expansions.

Add detection section to site

Update data

New detection box

moving detection box

Adding all detection info to dtection

grammar + punctuation
@gaberbz gaberbz force-pushed the Diagnostic-Relevance-And-June-Lit branch from 2b97df3 to 9d79649 Compare June 12, 2026 22:30
@gaberbz gaberbz marked this pull request as ready for review June 12, 2026 22:52
@gaberbz gaberbz requested a review from hdashnow June 12, 2026 22:52
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