| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.267 | CEP131 | Zornitza Stark Marked gene: CEP131 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.267 | CEP131 | Zornitza Stark Gene: cep131 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.267 | CEP131 | Zornitza Stark Classified gene: CEP131 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.267 | CEP131 | Zornitza Stark Gene: cep131 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.266 | CEP131 |
Zornitza Stark gene: CEP131 was added gene: CEP131 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CEP131 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP131 were set to 42299473 Phenotypes for gene: CEP131 were set to Infertility disorder, MONDO:0005047, CEP131-related Review for gene: CEP131 was set to GREEN Added comment: PMID 42299473 reports four individuals from four families with biallelic missense CEP131 variants presenting with multiple morphological abnormalities of the sperm flagellum (MMAF) and adult‑onset male infertility. Segregation analysis shows heterozygous carrier parents and unaffected siblings, confirming recessive inheritance. Functional studies reveal disrupted CEP131 localisation and loss of CEP131‑CEP290 interaction. Sources: Literature |
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