| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3866 | IQUB | Zornitza Stark Marked gene: IQUB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3866 | IQUB | Zornitza Stark Gene: iqub has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3866 | IQUB | Zornitza Stark Classified gene: IQUB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3866 | IQUB | Zornitza Stark Gene: iqub has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3865 | IQUB |
Zornitza Stark gene: IQUB was added gene: IQUB was added to Mendeliome. Sources: Literature Mode of inheritance for gene: IQUB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQUB were set to 39849482; 36355624 Phenotypes for gene: IQUB were set to Spermatogenic failure, MONDO:0004983, IQUB-related Review for gene: IQUB was set to AMBER Added comment: PMID 36355624 and PMID 39849482 report 2 unrelated families with autosomal recessive loss‑of‑function variants in IQUB (c.942T>G p.Tyr314* and c.842del p.L281Pfs*28) causing male infertility due to severe asthenospermia/astenozoospermia with normal sperm morphology. Functional studies include mouse knockout/knock‑in models that recapitulate the infertility phenotype. Sources: Literature |
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