| Component | Concise curator packet |
|---|---|
| Seed PMIDs with PubMed URLs | PMID:25062452 — https://pubmed.ncbi.nlm.nih.gov/25062452/ ; PMID:32402064 — https://pubmed.ncbi.nlm.nih.gov/32402064/ ; PMID:34718620 — https://pubmed.ncbi.nlm.nih.gov/34718620/ ; PMID:35718780 — https://pubmed.ncbi.nlm.nih.gov/35718780/ |
| Key mechanistic steps to verify | 1) Biallelic SYCE1 variant and segregation; 2) SYCE1 loss/reduced transcript or protein; 3) disrupted interaction with SYCP1 and/or C14ORF39/SIX6OS1; 4) synaptonemal-complex central element assembly failure; 5) homologous synapsis failure; 6) pachytene arrest/checkpoint evidence; 7) germ-cell depletion/apoptosis; 8) sex-specific phenotype link (46,XX POI vs 46,XY NOA) |
| Key clinical data fields to extract | 46,XX: age at presentation, primary amenorrhea/POI, FSH, LH, estradiol, AMH, ovarian ultrasound/follicle count, ovarian histology if available. 46,XY: semen analysis, FSH, LH, testosterone, inhibin B, testicular volume, testis biopsy stage, H&E/IF markers, pachytene arrest details, micro-TESE outcome |
| Recommended curation status | **Provisional: partially supported** based on seed-only evidence; keep as curator-verification required until full texts confirm variant classes/zygosity, assay details, and human-vs-model directness |


*Table: This table gives a compact verification packet for the SYCE1 mechanism entry, including the seed papers, the main mechanistic links to check, the clinical fields worth extracting, and a provisional curation status.*