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| Mendeliome v2.23 | BIRC6 | chirag patel Marked gene: BIRC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.23 | BIRC6 | chirag patel Gene: birc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.23 | BIRC6 |
chirag patel gene: BIRC6 was added gene: BIRC6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BIRC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BIRC6 were set to 42082826 Phenotypes for gene: BIRC6 were set to Premature ovarian failure, MONDO:0019852, BIRC6-related Review for gene: BIRC6 was set to RED Added comment: PMID 42082826 reports 5 affected females from a single consanguineous Iranian family with premature ovarian insufficiency and a homozygous missense variant in BIRC6 (p.Arg3756Cys). The variant segregated in 4 affected females (5th not tested) and in an unaffected male sibling, indicating female‑limited penetrance. Mother was an unaffected carrier. A zebrafish birc6 knockout recapitulates POI‑like reproductive deficits (reduced fecundity, aberrant oocyte morphology, and elevated embryonic death). BIRC6 encodes a large inhibitor of apoptosis (IAP) protein that suppresses programmed cell death by targeting executioner caspases for ubiquitin‑mediated degradation and participates in autophagy and DNA‑damage response. Sources: Literature |
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