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| Mendeliome v0.12933 | GCNA | Zornitza Stark Phenotypes for gene: GCNA were changed from Spermatogenic failure, X-linked, 4, MIM# 301077 to Spermatogenic failure, X-linked, 4, MIM# 301077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12933 | GCNA | Zornitza Stark Phenotypes for gene: GCNA were changed from primary spermatogenic failure to Spermatogenic failure, X-linked, 4, MIM# 301077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12932 | GCNA | Zornitza Stark reviewed gene: GCNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure, X-linked, 4, MIM# 301077; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8587 | GCNA | Zornitza Stark Marked gene: GCNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8587 | GCNA | Zornitza Stark Gene: gcna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8587 | GCNA | Zornitza Stark Classified gene: GCNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8587 | GCNA | Zornitza Stark Gene: gcna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8586 | GCNA |
Ain Roesley gene: GCNA was added gene: GCNA was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GCNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GCNA were set to 33963445 Phenotypes for gene: GCNA were set to primary spermatogenic failure Penetrance for gene: GCNA were set to unknown Review for gene: GCNA was set to GREEN Added comment: 7x probands all missense except 1 fs. Variants had <0.0005 MAF in gnomad v2 male cohort and absent in 5784 Dutch control cohort no functional studies were done except for histology of Ser659Trp, revealing a Sertoli-cell only Sources: Literature |
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