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Description Updated the criTRia evidence details and root-level description for TAF1 / XDP based on the reviewed literature and SOP-guided curation. Fixes: # Link to any relevant issues and/or discussions Major Changes None. Minor Changes Added a concise root-level description summarizing the TAF1/XDP locus-disease relationship. Updated vague or missing evidence detail fields for existing genetic and experimental evidence rows. Clarified support for the XDP-specific TAF1 intron 32 SVA retrotransposon insertion and the variable (CCCTCT)n hexameric repeat. Added clearer evidence summaries for: proband/cohort evidence repeat length correlation with age at onset segregation/linkage evidence TAF1 regulatory impact and aberrant transcription carrier iPSC/non-patient-cell evidence SVA-associated chromatin regulation Flagged curator-review concerns where the cited evidence type may not fully match the source: PMID:30973967 appears to provide clinical/caregiver cohort context rather than primary proband genetic discovery evidence. PMID:34250228 reports human postmortem brain repeat-instability data, not a non-human model organism. 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 --------- Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
## Description Updated the criTRia evidence details and root-level description for the DMPK–DM1 locus-disease relationship. This PR improves the clarity and source-specificity of existing evidence text while preserving the original scores, evidence rows, category summaries, total score, classification, publication count, and publication interval. Fixes: # ## Major Changes - None. - No new locus, pathogenic threshold, coordinate, feature, or data field was added. - No scores or classification values were changed. ## Minor Changes - Added a root-level `Description` for the DMPK–DM1 curation. - Updated existing evidence detail text for: - Allele evidence using PMID:32851192 and PMID:39643839. - Probands evidence using PMID:20635151. - Rescue in non-human model organism using PMID:39932794. - Rescue in cell culture using PMID:16027111. - Non-human model organism evidence using PMID:31649961. - Patient cell evidence using PMID:31649961. - Retained the existing Case-Control Data evidence detail for PMID:7847063 without changing the score or evidence row. - Improved wording to make each evidence detail concise, factual, and directly tied to the assigned evidence type. ## Checklist - [x] 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 --------- Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
Description Updated the existing PRNP_CJD criTRia JSON entry to improve curator-facing evidence descriptions and add a root-level disease/locus summary. The changes clarify that PRNP octapeptide repeat insertions in the exon 2/N-terminal coding repeat region are associated with autosomal dominant genetic CJD/inherited prion disease, and they replace null or vague evidence details with concise source-specific summaries. The original scores, evidence rows, schema, summaries, classification, publication count, and publication interval were preserved. Fixes: # Link to any relevant issues and/or discussions Major Changes None Minor Changes Added root-level Description for PRNP_CJD. Updated existing evidence details for: Probands citing pmid:29887139 Segregation citing pmid:1683708 Biochemical function citing pmid:37379724 Protein interaction citing pmid:29939637 Regulatory Impact citing pmid:36977684; pmid:38467784; pmid:1683708 Clarified that the Protein interaction evidence is gene-level rather than OPRI-specific. Flagged the Regulatory Impact row for curator review because the uploaded sources do not support PRNP OPRI-specific epigenetic, splicing, or expression-regulatory evidence. No scores, evidence categories, total score, classification, or publication metadata were changed. Original score/classification values are unchanged from the prior JSON. --------- Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
## Description
Updated the RUNX2_CCD criTRia entry by refining the root-level
description and evidence details for the RUNX2 Q/A repeat–CCD
relationship. The update adds clearer, publication-supported evidence
text for RUNX2 polyalanine and polyglutamine repeat variants, and
summarizes repeat-specific experimental evidence related to aggregation,
coiled-coil formation, condensate behavior, MED1 co-condensation, and
transcriptional activity.
Fixes: # **Link to any relevant issues and/or discussions**
## Major Changes
- None.
- No new locus, pathogenic threshold, coordinate, feature, or data field
was added.
- Scores, category summaries, total score, classification, publication
count, and publication interval were preserved.
## Minor Changes
- Updated the root-level `Description` for RUNX2_CCD to summarize human
repeat-specific evidence and experimental support.
- Refined evidence details for:
- `pmid:26220009`: Japanese sporadic CCD patient with RUNX2 +3Ala / 20A
polyalanine expansion.
- `pmid:9182765`: RUNX2/CBFA1 +10A / 27A polyalanine expansion
segregating in family CCD-B.
- `pmid:25852448`: familial RUNX2 27Q/17A glutamine-repeat variant and
repeat-slippage context.
- `pmid:32386547`: RUNX2 IDR phase separation, MED1 co-condensation, and
reduced reporter activity.
- `pmid:24497578`: RUNX2 polyQ/polyA coiled-coil formation and
aggregation/mislocalization assays.
- Left the `pmid:40585427` proband evidence detail blank/pending curator
review because the reported RUNX2 expansions were secondary findings
without reported CCD features.
- Added Elbay Aliyev to the curator field in the updated JSON.
:contentReference[oaicite:0]{index=0}
## Checklist
- [x] 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
---------
Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
## Description Updated ARX_EIEE1 criTRia evidence details and added a root-level description based on reviewed literature support. No scores, summaries, classification, publication counts, or schema fields were changed. Fixes: # ## Major Changes - None ## Minor Changes - Added ARX_EIEE1 root-level `Description`. - Expanded vague genetic evidence details for probands, segregation, and allele evidence. - Clarified experimental evidence details for non-human model organism and biochemical function. - Left unsupported/unclear experimental evidence rows blank for curator review instead of retaining vague details. ## Checklist - [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com> Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
Updated the CSNK1E_EPM criTRia entry by adding a concise locus/disease description and improving supported evidence details for genetic and non-patient cell evidence. Unsupported/uncertain experimental evidence details were cleared for curator review. Fixes: # Major Changes None Minor Changes Added root-level Description for CSNK1E CGG repeat expansion and EPM. Expanded the Probands evidence detail from a vague note to a specific summary of the Azerbaijani proband, repeat size, methylation evidence, and incomplete penetrance. Expanded the Case-control data evidence detail with 1KGP ONT comparison and repeat-size context. Added detail for Non-patient cells evidence from PMID:32937144. Cleared unsupported/uncertain Regulatory impact and Patient cells evidence details for curator review instead of retaining vague claims. 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com> Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
Description Updated the STARD7/FAME2 criTRia entry by filling previously empty Evidence detail fields and adding a concise root-level Description based on PMID:31664034. Fixes: # Link to any relevant issues and/or discussions Major Changes None Minor Changes Added evidence details for STARD7/FAME2 genetic evidence rows: Probands Allele Computational Segregation Case-control data Added root-level disease/locus description summarizing the intronic STARD7 ATTTC expansion evidence. No scores, evidence rows, category summaries, total score, classification, or publication metadata were changed. 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
Description Updated the SAMD12_FAME1 criTRia entry by filling the root-level Description and improving vague/null Evidence detail fields while preserving scores, evidence rows, summaries, total score, classification, and schema. Fixes: # Major Changes None Minor Changes Added concise FAME1/SAMD12 locus-level description. Updated evidence details for probands, allele correlation, computational evidence, segregation, and biochemical function. Added curator-review note to the existing Protein interaction row because PMID:29507423 does not appear to support a protein interaction assay. Preserved all existing scores and summary fields from the original JSON. 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com> Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
## Description Updated the YEATS2_FAME4 criTRia entry by replacing null/vague evidence details with concise source-supported descriptions and adding a root-level disease/locus description. Fixes: # **Link to any relevant issues and/or discussions** ## Major Changes * None ## Minor Changes * Added FAME4/YЕATS2 description summarizing the intronic TTTTA/TTTCA repeat expansion, Thai family segregation, linkage evidence, and gene-level Drosophila support. * Clarified existing evidence details for proband, segregation, biochemical function, regulatory impact, and non-human model organism rows. * Added curator name to the existing curator field. * No scores, summaries, classification, publication count, or evidence rows were changed. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
Updated the MARCHF6/FAME3 criTRia entry by replacing the null root-level description and refining vague/null evidence detail fields with concise source-supported wording. The updates clarify the MARCH6/MARCHF6 intronic TTTTA/TTTCA expansion evidence, including four reported European families, segregation, computational detection, control data, allele-size correlation, and patient-derived cell findings. Fixes: # Major Changes None Minor Changes Added a concise root-level disease/locus description for FAME3_MARCHF6. Updated vague or null genetic evidence details for probands, allele association, segregation, computational evidence, and case-control data. Updated supported experimental evidence details for PMID:31664039. Left unsupported experimental evidence rows blank for curator review rather than adding unsupported claims. 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com> Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com> Co-authored-by: hdashnow <3794821+hdashnow@users.noreply.github.com>
## Description Updated the TNRC6A/FAME6 criTRia entry by adding a concise locus-level description and improving incomplete evidence-detail fields based on PMID:29507423. The updated entry now describes the F9283 BAFME6 family, TNRC6A TTTCA/TTTTA expansion validation, segregation, and control observations. Fixes: # ## Major Changes * None ## Minor Changes * Added root-level `Description` for TNRC6A/FAME6. * Updated Probands evidence detail from vague value `"1.0"` to a concise summary of the affected F9283 family and validation methods. * Updated Allele evidence detail from `null` to a concise control/allele-specific summary. * Cleared unsupported/vague Regulatory impact detail pending curator review; no scores or summary fields were changed. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com> Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
## Description
Updated the RAPGEF2_FAME7 criTRia entry by adding a concise locus-level
description and replacing vague evidence details with PMID-supported
summaries for RAPGEF2 intronic TTTCA repeat expansion evidence. Scores,
classification, summaries, and schema were unchanged.
:contentReference[oaicite:0]{index=0}
Fixes: #
## Major Changes
- None
## Minor Changes
- Added root-level `Description` for RAPGEF2_FAME7.
- Updated Probands evidence detail to summarize two unrelated
FAME/BAFME/FCMTE families with RAPGEF2 intronic TTTCA repeat expansions.
- Updated Allele evidence detail to clarify the ~60 TTTCA repeat motif
in the Chinese RAPGEF2 family and absence from tested controls.
- Preserved existing scores, category summaries, total score,
publication count, classification, and evidence rows.
:contentReference[oaicite:1]{index=1}
:contentReference[oaicite:2]{index=2}
## Checklist
- [x] 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
---------
Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description
Updated the AFF3_FRA2A criTRia JSON by adding a root-level description
and replacing null/vague evidence details with concise, source-supported
curation text. Scores, evidence rows, category summaries, total score,
classification, and publication metrics were preserved. Based on
before/after JSON comparison. :contentReference[oaicite:0]{index=0}
:contentReference[oaicite:1]{index=1}
Fixes: #
## Major Changes
- None
## Minor Changes
- Added a concise AFF3_FRA2A description summarizing the FRA2A repeat
expansion, AFF3 silencing, ID/developmental delay association, and
supporting population/trio evidence.
- Updated vague or null evidence details for probands, segregation,
case-control, computational, regulatory impact, patient/non-patient
cells, protein interaction, and non-human model organism.
- Clarified gene-level evidence where the cited study did not directly
test FRA2A repeat-specific protein interaction or model-organism
effects.
## Checklist
- [x] 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
---------
Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description Updated the FRA7A_ZNF13 criTRia entry for **ZNF713–FRA7A** by adding a concise root-level disease/locus description and replacing incomplete evidence details with paper-supported curation text. Scores, summaries, classification, publication count, and schema were preserved. The entry remains classified as **Moderate** with total score 7. Fixes: # ## Major Changes * None ## Minor Changes * Added root-level `Description` summarizing the FRA7A CGG-repeat expansion, ASD-associated families, methylation/expression findings, control data, and uncertainty in the reported association. * Updated the **Probands** evidence detail from `null` to a concise summary of two unrelated ASD families with FRA7A full expansion/premutation evidence and ZNF713 dysregulation. * Replaced the vague **Case-control data** evidence detail with specific control findings: 176 controls with 5–22 CGG repeats, no premutation-range alleles, and no additional FRA7A cases in >9,000 neurodevelopmental cytogenetic analyses, while noting limitations. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description
Updated the **HOXA13 / HFG-I** criTRia entry by refining experimental
evidence details and adding primary mouse-model support from
**PMID:15385446**. The update clarifies evidence from **PMID:17935235**
for HOXA13 polyalanine-expanded protein aggregation, altered protein
abundance, and sequestration of wild-type HOXA13/HOXD13, and adds
**PMID:15385446** for the Hoxa13Ala28 knock-in mouse model showing
loss-of-function-like phenotype with normal RNA expression/splicing but
reduced HOXA13 protein abundance. :contentReference[oaicite:0]{index=0}
Fixes: #
## Major Changes
- None
## Minor Changes
- Updated root-level `Description` for **HOXA13 / HFG-I**
- Expanded evidence details for existing experimental evidence rows
- Added **PMID:15385446** citation to relevant experimental evidence
rows
- Updated **Non-human model organism** evidence to cite the primary
mouse-model paper
- Clarified that reduced HOXA13 abundance reflects post-transcriptional
protein reduction/degradation rather than altered transcription or
splicing
- Preserved all existing scores, summaries, classification, and JSON
schema from the original entry :contentReference[oaicite:1]{index=1}
## Checklist
- [x] 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
---------
Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
## Description Updated the **XYLT1_DBQD2** criTRia entry by replacing incomplete/null evidence details and adding a root-level disease description. Changes summarize evidence for XYLT1-related autosomal recessive DBQD2/Baratela-Scott syndrome, including biallelic XYLT1 variants, promoter/5′ UTR GGC repeat expansion with exon 1 hypermethylation, and gene-level functional evidence from patient fibroblasts. ## Major Changes * None ## Minor Changes * Added root-level `Description` for the XYLT1–DBQD2 locus-disease relationship. * Updated incomplete `Evidence detail` fields for: * Probands * Biochemical function * Protein interaction * Regulatory impact * Clarified when evidence is gene-level and not tandem-repeat-specific. * Preserved all scores, summaries, classification, publication counts, and schema from the original JSON. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description Updated the `VWA1_HMNR7` criTRia curation evidence details and description based on reviewed source papers. Fixes: # ## Major Changes * None ## Minor Changes * Updated root-level `Description` for `VWA1_HMNR7`. * Expanded vague/null evidence details for: * `Probands` — clarified 17 affected individuals from 15 unrelated families and recurrent c.62_71dup/p.Gly25ArgfsTer74 allele. * `Segregation` — clarified trans confirmation, inheritance evidence, and autozygosity support; noted no formal LOD score was reported. * `Protein interaction` — clarified this is gene-level evidence only and not tandem-repeat/locus-specific. * Left `Patient cells` evidence detail blank/pending curator review because PMID:39502942 does not clearly support a patient-derived cell functional assay tied to the VWA1 repeat locus. #403 * No scores, category summaries, total score, classification, publication counts, or schema fields were changed. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com> Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com> Co-authored-by: hdashnow <3794821+hdashnow@users.noreply.github.com>
Curator update --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description Updated the EIF4A3–RCPS criTRia curation by improving the root-level description and replacing vague/null evidence details with concise, source-supported summaries. Fixes: # ## Major Changes * None ## Minor Changes * Added a root-level `Description` for the EIF4A3–RCPS locus-disease relationship. * Clarified proband evidence from PMID:29112243, including affected individuals/families and biallelic EIF4A3 repeat/missense variants. * Clarified segregation evidence from PMID:24360810, including the 17q25.3 linkage region and LOD score. * Added patient-cell evidence detail from PMID:28334780 describing iPSC-derived neural crest and mesenchymal cell findings. * Clarified mouse and zebrafish model evidence, explicitly noting that these are gene-level EIF4A3 deficiency models rather than repeat-allele-specific models. * No scores, evidence rows, summaries, classification, or publication metadata were changed. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description Updates the existing **RILPL1_OPDM4** criTRia entry by filling previously missing or incomplete `Description` and `Evidence detail` fields using the reviewed PMID-specific sources. ## Major Changes * None ## Minor Changes * Added root-level `Description` for the RILPL1–OPDM4 locus-disease relationship. * Updated evidence details for: * Probands * Segregation * Protein interaction * Regulatory impact * Patient cells * Clarified caveats for cohort-level proband evidence and regulatory findings where RILPL1 mRNA/protein levels were not consistently changed. * Preserved all existing scores, evidence rows, summaries, classification, publication counts, and schema. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description Updated the `GIPC1_OPDM2` criTRia curation by improving the root-level `Description` and replacing vague or null `Evidence detail` fields with concise, source-supported curator text. Fixes: # **Link to relevant issue/discussion** ## Major Changes * None ## Minor Changes * Updated the OPDM2/GIPC1 root-level `Description` to summarize the locus-disease relationship. * Refined genetic evidence details for: * `pmid:32413282` * `pmid:33374016` * `pmid:39492694` * Added experimental evidence details for: * `pmid:39936620` — HSPB1 rescue in poly-G/autophagy cell models * `pmid:39418922` — patient tissue/cell pathology with p62-positive intranuclear inclusions * `pmid:35152460` — GIPC1 repeat-specific patient fibroblast regulatory/functional findings * Added curator-review language where evidence was locus-specific but not fully OPDM2-specific or where the source did not fully match the original row wording. * No scores, evidence rows, summaries, classification, publication counts, or schema fields were changed. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description
Update the MIR7-2_CHNG3 criTRia entry by refining the root-level
description and improving existing evidence detail fields for the
CHNG3/MIR7-2 locus based on the provided 2024 literature. No scores,
summaries, classifications, or schema fields were changed.
:contentReference[oaicite:0]{index=0}
Fixes: #
## Major Changes
- None
## Minor Changes
- Added a concise disease/locus description for CHNG3/MIR7-2.
- Expanded vague or missing evidence details for:
- Probands
- Segregation
- Case-control data
- Regulatory impact
- Patient cells
- Clarified locus-specific regulatory evidence involving the 15q26.1
TTTG STR and MIR7-2/MIR1179 expression.
## Checklist
- [x] 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
---------
Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description Updated the ARX–PRTS criTRia entry by improving the root-level `Description` and refining existing `Evidence detail` fields for clarity, consistency, and locus-specific interpretation. The update preserves the original schema, scores, evidence rows, summaries, total score, classification, and publication metadata. ## Minor Changes * Added a concise ARX–PRTS description summarizing the X-linked ARX polyalanine expansion relationship. * Clarified proband evidence from PMID:20506206, including the recurrent pA2 24-bp duplication and reported PRTS families. * Clarified allele evidence from PMID:20506206, including pA2 length/structure effects and phenotype severity. * No scores, evidence categories, classification, or summary totals were changed. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description Updated the FOXL2-BPES criTRia entry by refining the root-level description and replacing vague or missing evidence details with concise, source-supported summaries. No scores, evidence rows, category summaries, total score, publication counts, or classification were changed. ## Major Changes * None ## Minor Changes * Updated root-level `Description` for FOXL2-BPES. * Clarified proband evidence from PMID:11468277 and PMID:27283035. * Clarified computational and segregation evidence from PMID:33875939, including correction that no LOD score was reported. * Added concise experimental evidence details for cell culture, non-patient cell, and non-human model organism rows. * Marked gene-level/non-repeat-specific evidence where appropriate for curator clarity. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
## Description Update PLIN4 / MRUPAV criTRia curation evidence details and description. ## Major Changes - No new locus, pathogenic threshold, coordinate, feature, or data field added. - No scores, category summaries, total score, classification, publication count, or publication interval were changed. ## Minor Changes - Added root-level `Description` for PLIN4 / MRUPAV. - Updated vague evidence-detail text for: - Probands - Computational - Segregation - Biochemical function - Protein interaction - Regulatory impact - Patient cells - Left curator-review items blank/pending in the updated JSON for: - **Allele evidence — PMID:37145156** - **Cell culture evidence — PMID:40693562** - Preserved original criTRia schema and existing score structure. ## Curator Review Needed #407 - **Allele evidence — PMID:37145156** - Current score: 1.0 - Review whether this paper supports allele-size correlation, pathogenic threshold, or anticipation evidence. The available evidence appears cohort/phenotype-focused rather than clear allele-level evidence. - **Cell culture evidence — PMID:40693562** - Current score: 1.0 - Review whether this should remain under Cell culture evidence. The cited work appears to support patient/control muscle tissue and molecular assays rather than an in vitro cell-culture model. ## 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com> Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
## Description Updated the RAI1_FAME8 criTRia JSON evidence details and added a concise root-level description. The update clarifies the supported proband evidence for the RAI1 intronic TTTTA/TTTCA repeat expansion and leaves unsupported/uncertain evidence-detail fields blank for curator review. The original JSON had a null description and vague/null evidence details such as “1 family,” “use a few,” “Expression,” and null experimental rows. The updated JSON now includes a disease/locus summary and a detailed proband evidence description, while retaining the original scores, summaries, classification, and schema. Fixes: # **Link to curator review issue** ## Major Changes * None ## Minor Changes * Added root-level `Description` for RAI1_FAME8. * Updated the proband evidence detail for `pmid:37994247` with concise support from the Malian family study. * Cleared vague or unsupported evidence-detail fields requiring curator review for computational and experimental evidence rows. * Preserved all existing scores, category summaries, total score, classification, publication count, and JSON schema. ## Checklist * [x] 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 --------- Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com> Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
FRA7A and TYMS loci ## Major Changes - Added FRA7A_ZNF13 - Added CPUM_TYMS # Checklist - [x] 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 --------- Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com> Co-authored-by: hdashnow <3794821+hdashnow@users.noreply.github.com>
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Description
Collecting curation updates for several genes here to avoid spamming main/versions
Fixes: # Link to any relevant issues and/or discussions
Major Changes
Minor Changes
Checklist
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.