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| Infertility and Recurrent Pregnancy Loss v1.129 | C11orf80 | Zornitza Stark Phenotypes for gene: C11orf80 were changed from Recurrent hydatidiform mole 4, MIM # 618432 to Infertility disorder, MONDO:0005047, C11orf80-related; hydatidiform mole, recurrent, 4, MONDO:0032747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.128 | C11orf80 | Zornitza Stark Publications for gene: C11orf80 were set to 30388401; 36732965 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.127 | C11orf80 | Zornitza Stark reviewed gene: C11orf80: Rating: AMBER; Mode of pathogenicity: None; Publications: 41644825, 30388401; Phenotypes: Infertility disorder, MONDO:0005047, C11orf80-related, hydatidiform mole, recurrent, 4, MONDO:0032747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.105 | C11orf80 | Zornitza Stark Marked gene: C11orf80 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.105 | C11orf80 | Zornitza Stark Gene: c11orf80 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.105 | C11orf80 | Zornitza Stark Publications for gene: C11orf80 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.104 | C11orf80 | Zornitza Stark Classified gene: C11orf80 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.104 | C11orf80 | Zornitza Stark Gene: c11orf80 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | C11orf80 | Zornitza Stark Tag new gene name tag was added to gene: C11orf80. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.77 | C11orf80 | Jasmine Chew edited their review of gene: C11orf80: Changed publications: 30388401, 36732965 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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