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| Infertility and Recurrent Pregnancy Loss v2.0 | TOP6BL | Gene symbol changed from C11orf80 to TOP6BL during gene set migration (ENSG00000173715 -> ENSG00000173715) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.77 | C11orf80 |
Jasmine Chew gene: C11orf80 was added gene: C11orf80 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: C11orf80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C11orf80 were set to Recurrent hydatidiform mole 4, MIM # 618432 Review for gene: C11orf80 was set to AMBER Added comment: Note: HGNC Approved Gene Symbol- TOP6BL Literature in OMIM- PubMed: 30388401- Two unrelated females with RHMs carrying a homozygous p.Glu262∗ and p.Ser501Pro, respectively. New paper (biallelic variants for OZEMA/NOA) i) PMID: 36732965- A homozygous LOF p.E162* in four infertile siblings born to a consanguineous marriage, with three brothers suffering from non-obstructive azoospermia and one sister suffering from unexplained infertility. Mouse models carrying similar mutations to that in patients recapitulated the spermatogenic abnormalities of the patient. Sources: Literature |
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