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| Mendeliome v2.0 | TOP6BL | Gene symbol changed from C11orf80 to TOP6BL during gene set migration (ENSG00000173715 -> ENSG00000173715) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4561 | C11orf80 |
Zornitza Stark edited their review of gene: C11orf80: Added comment: PMID 41644825 reports a Turkish consanguineous family with a homozygous splice‑site TOP6BL variant (c.523+1G>C) causing adult‑onset non‑obstructive azoospermia (NOA) and meiotic arrest; mouse Top6bl knockout recapitulates the male‑infertility phenotype. PMID 30388401 describes two unrelated families with biallelic TOP6BL loss‑of‑function alleles (c.783dup and c.1501T>C) presenting with recurrent complete hydatidiform mole (CHM) and miscarriage. Maintain Amber rating as unclear whether these two disease associations are related or distinct.; Changed publications: 41644825, 30388401; Changed phenotypes: Infertility disorder, MONDO:0005047, C11orf80-related, hydatidiform mole, recurrent, 4, MONDO:0032747 |
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| Mendeliome v1.2742 | C11orf80 |
Zornitza Stark gene: C11orf80 was added gene: C11orf80 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: C11orf80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C11orf80 were set to 30388401; 36732965 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: Expert list |
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