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| Mendeliome v1.4603 | CEP112 | Bryony Thompson Publications for gene: CEP112 were set to 31654588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4602 | CEP112 | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4602 | CEP112 | Bryony Thompson edited their review of gene: CEP112: Added comment: PMIDs 31654588, 39349455 report a total of 4 unrelated families (4patients) with biallelic loss‑of‑function CEP112 variants causing male infertility phenotypes ranging from acephalic spermatozoa to oligoasthenoteratozoospermia and non‑obstructive azoospermia. Functional evidence includes loss of CEP112 protein in patient sperm, mouse Cep112 knockout infertility with ICSI rescue, and impaired phase‑separation of mutant proteins, supporting a diagnostic‑grade association of CEP112 with spermatogenic failure 44.; Changed publications: 39349455, 31654588; Changed phenotypes: spermatogenic failure 44, MONDO:0033622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4602 | CEP112 | Bryony Thompson Classified gene: CEP112 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4602 | CEP112 | Bryony Thompson Gene: cep112 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4601 | CEP112 | Bryony Thompson edited their review of gene: CEP112: Added comment: Now 4 unrelated biallelic male cases and a supporting mouse model.; Changed rating: GREEN; Changed publications: 31654588, 39349455; Changed phenotypes: spermatogenic failure MONDO:0004983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4894 | CEP112 | Zornitza Stark Marked gene: CEP112 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4894 | CEP112 | Zornitza Stark Gene: cep112 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4894 | CEP112 | Zornitza Stark Phenotypes for gene: CEP112 were changed from Acephalic spermatozoa; infertility to Spermatogenic failure 44, MIM#619044; Acephalic spermatozoa; infertility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4893 | CEP112 | Zornitza Stark reviewed gene: CEP112: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 44, MIM#619044; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2792 | CEP112 | Bryony Thompson Classified gene: CEP112 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2792 | CEP112 | Bryony Thompson Gene: cep112 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2791 | CEP112 |
Bryony Thompson gene: CEP112 was added gene: CEP112 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CEP112 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP112 were set to 31654588 Phenotypes for gene: CEP112 were set to Acephalic spermatozoa; infertility Review for gene: CEP112 was set to AMBER Added comment: Two unrelated cases reported with acephalic spermatozoa, one case with a homozygous nonsense variant and the other case with biallelic missense variants. CEP112 expression was significantly reduced in one of the cases, suggesting loss of function as a mechanism of disease. Sources: Literature |
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