Issues

• Should STRchive differentiate between specific intermediate allele size ranges?

  enhancementquestion
  dashnowlab/STRchive#530 · Filter by author hdashnow opened on Oct 8, 2026

• potential non-pathogenic motif in BEAN1 pathogenic field

  dashnowlab/STRchive#529 · Filter by author gaberbz opened on Oct 6, 2026
  2

• Redirects for renamed IDs

  dashnowlab/STRchive#527 · Filter by author hdashnow opened on Oct 2, 2026
  4

• SD5_HOXD13: clarify disease (SPD1) and handle polyalanine contraction alleles (brachydactyly-syndactyly syndrome)

  dashnowlab/STRchive#526 · Filter by author hdashnow opened on Oct 2, 2026

• Diseases with NULL HPO terms

  dashnowlab/STRchive#522 · Filter by author marlosal opened on Sep 30, 2026

• Potential New Disease Locus: BIN1

  dashnowlab/STRchive#521 · Filter by author gaberbz opened on Sep 26, 2026
  

• VWA1 / HMNR7: pathogenic range (1 to 3) spans the benign reference allele (2)

  dashnowlab/STRchive#516 · Filter by author rociorius opened on Sep 4, 2026
  1

  

• Mismatch between 'locus_structure' and 'pathogenic_motif_reference_orientation' in FAME2_STARD7 intended?

  dashnowlab/STRchive#512 · Filter by author roland-ewald opened on Aug 21, 2026
  4

• Update resources

  dashnowlab/STRchive#495 · Filter by author hdashnow opened on Jun 21, 2026

• CSNK1E pathogenic range appearing in unaffected individuals

  dashnowlab/STRchive#494 · Filter by author gaberbz opened on Jun 19, 2026
  

• HPO term validation too strict

  bug
  dashnowlab/STRchive#472 · Filter by author hdashnow opened on May 21, 2026

• Curator review items identified during PLIN4 / MRUPAV criTRia evidence-detail update.

  dashnowlab/STRchive#407 · Filter by author elbayaliyev opened on May 13, 2026
  2

• SBMA_AR hg38 catalog region yields inflated NA12878 AR CAG sizing

  dashnowlab/STRchive#340 · Filter by author jamiequint opened on Apr 15, 2026

• TR metadata updates in the gnomAD browser

  dashnowlab/STRchive#331 · Filter by author bw2 opened on Mar 11, 2026
  7

• PLIN4 exon3 or exon5?

  dashnowlab/STRchive#311 · Filter by author elbayaliyev opened on Dec 15, 2025
  2

• ATXN8OS motifs and pathogenicity limits

  dashnowlab/STRchive#302 · Filter by author dnil opened on Nov 28, 2025
  2

  

• Incorrect genomic co-ordinates for TAF1

  dashnowlab/STRchive#281 · Filter by author SamBryen opened on Oct 16, 2025
  4

• FECD_MIR184

  little evidencenew locus
  dashnowlab/STRchive#269 · Filter by author Macayla-weiner opened on Sep 19, 2025

• RFC1 expansions: different motifs have different thresholds?

  enhancementlocus update
  Feature

  dashnowlab/STRchive#258 · Filter by author bw2 opened on Aug 14, 2025
  1

  

• Consider adding FSHD (AKA D4Z4 or DUX4) to STRchive (VNTR contraction)

  new locus
  dashnowlab/STRchive#231 · Filter by author hdashnow opened on Jul 21, 2025

• PLIN4 motif

  locus update
  dashnowlab/STRchive#215 · Filter by author hdashnow opened on Jul 1, 2025
  1

• Missing clinical relevant interruptions

  enhancement
  dashnowlab/STRchive#203 · Filter by author jakobht96 opened on Jun 25, 2025 · STRchive v3
  6

  

• Phenotypic expansion from the UDN paper

  dashnowlab/STRchive#195 · Filter by author hdashnow opened on Jun 5, 2025

• OPDM2 GIPC1--unaffected fathers with massive expansions?

  locus update
  dashnowlab/STRchive#192 · Filter by author laurelhiatt opened on Jun 4, 2025
  3

• Should MND be noted on C9orf72

  locus update
  dashnowlab/STRchive#190 · Filter by author Macayla-weiner opened on Jun 3, 2025
  2