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| Mendeliome v2.0 | CFAP263 | Gene symbol changed from CCDC113 to CFAP263 during gene set migration (ENSG00000103021 -> ENSG00000103021) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4526 | CCDC113 |
Zornitza Stark gene: CCDC113 was added gene: CCDC113 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC113 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC113 were set to 41645397; 41645397 Phenotypes for gene: CCDC113 were set to Infertility disorder, MONDO:0005047, CCDC113-related Review for gene: CCDC113 was set to AMBER Added comment: PMID 41645397 reports three affected men from two unrelated families who carry biallelic missense variants in CFAP263 (CCDC113) and present with severe oligoasthenoteratozoospermia. The variants cosegregate as recessive, are absent from population databases, and functional studies (reduced protein stability and a Ccdc113 knockout mouse model) recapitulate the infertility phenotype. Sources: Literature |
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