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

[elbayaliyev]

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

• Curator review needed for PLIN4 / MRUPAV scoring support:

  • Allele evidence — PMID:37145156

    • Current score: 1.0
    • Issue: The paper describes a large Italian PLIN4-related myopathy cohort and notes the PLIN4 expansion in affected individuals, but it does not clearly support allele-size correlation, anticipation, or pathogenic threshold evidence. The expansion is described as unvaried among affected patients.
    • Suggested review: Confirm whether this row should remain under Allele evidence, be rescored, or be supported by another PMID.

  • Cell culture evidence — PMID:40693562

    • Current score: 1.0
    • Issue: The paper includes patient/control muscle tissue analysis, pathology, western blotting, RNA-seq, and long-read sequencing, but no clear in vitro cell-culture model was identified.
    • Suggested review: Confirm whether this should remain as Cell culture evidence, be moved to Patient cells/tissue-based functional alteration, or be rescored.

[hdashnow]

I fixed the above issues in #408, but identified an additional one. It looks like the this may or may not be computational evidence but I couldn't access the second paper to varify.

  {
    "Evidence type": "Computational",
    "Score": 0.0,
    "Citation": "pmid:40693562; pmid:39102614",
    "Evidence detail": "PMID:40693562 used WES coverage and RNA-seq review as part of the workup: increased PLIN4 exon coverage suggested an expanded allele, while RNA-seq showed normal PLIN4 expression and no splicing effect; ONT sequencing confirmed the expansion. PMID:39102614 is a clinical cohort/prognostic study and does not provide TR-specific computational pathogenicity evidence.",
    "evidence_category": "Collective Evidence",
    "evidence_supercategory": "Genetic Evidence",
    "evidence_max_score": 3,
    "category_max_score": 3,
    "publication_dates": ["2025-10-01", "2024-08-27"]
  },