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| Mendeliome v0.6462 | C14orf39 | Zornitza Stark Phenotypes for gene: C14orf39 were changed from Azoospermia; Premature ovarian insufficiency to Spermatogenic failure 52, MIM# 619202; Premature ovarian failure 18 619203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6461 | C14orf39 | Zornitza Stark reviewed gene: C14orf39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 52, MIM# 619202, Premature ovarian failure 18 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6180 | C14orf39 | Zornitza Stark Marked gene: C14orf39 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6180 | C14orf39 | Zornitza Stark Gene: c14orf39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6180 | C14orf39 | Zornitza Stark Classified gene: C14orf39 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6180 | C14orf39 | Zornitza Stark Gene: c14orf39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6171 | C14orf39 |
Elena Savva gene: C14orf39 was added gene: C14orf39 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf39 were set to PMID: 33508233; 27796301 Phenotypes for gene: C14orf39 were set to Azoospermia; Premature ovarian insufficiency Review for gene: C14orf39 was set to GREEN Added comment: PMID: 33508233 - 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency) - 2 unrelated Chinese males with azoospermia All patients had either homozygous PTCs or splice PMID: 27796301 Mouse K/O had azoospermia and ovarian failure Sources: Literature |
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