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| Infertility and Recurrent Pregnancy Loss v2.3 | CCDC174 | Sarah Milton Classified gene: CCDC174 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.3 | CCDC174 | Sarah Milton Gene: ccdc174 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.2 | CCDC174 |
Sarah Milton gene: CCDC174 was added gene: CCDC174 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: CCDC174 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC174 were set to 42120494 Phenotypes for gene: CCDC174 were set to Infertility disorder, MONDO:0005047, CCDC174-related Review for gene: CCDC174 was set to GREEN Added comment: CCDC174 encodes a protein thought to be involved in regulation of alternative splicing and of mRNAs by interacting with the PRP19/CDC5L complex. It is highly expressed in oocytes. PMID 42120494 reports five females with biallelic variants (missense or frameshift) in CCDC174 presenting with primary infertility due to oocyte maturation arrest, fertilisation failure or early embryonic arrest. Variants were at appropriate frequencies in gnomAD v4 for a rare recessive disorder. Supportive mouse studies with oocyte specific knockout of CCDC174 recapitulating the infertility phenotype. Homozygous germline wide knockout mice were neonatal lethal. Sources: Literature |
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