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| Mendeliome v1.4130 | CCDC149 | Zornitza Stark Marked gene: CCDC149 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4130 | CCDC149 | Zornitza Stark Gene: ccdc149 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4130 | CCDC149 |
Zornitza Stark gene: CCDC149 was added gene: CCDC149 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC149 were set to 40459248 Phenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related Review for gene: CCDC149 was set to RED Added comment: PMID 40459248 reports a single 8‑year‑old boy from a consanguineous family with bilateral cryptorchidism due to a homozygous nonsense CCDC149 variant (c.448C>T, p.Gln150Ter), biparental inheritance. Ccdc149 knockout mice recapitulate undescended testes and sperm abnormalities, supporting loss‑of‑function as the disease mechanism. Sources: Literature |
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