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| Mendeliome v0.7002 | ACTL9 | Zornitza Stark Phenotypes for gene: ACTL9 were changed from Fertilization failure; male infertility to Spermatogenic failure 53, MIM#619258; Fertilization failure; male infertility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7001 | ACTL9 | Zornitza Stark reviewed gene: ACTL9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 53, MIM#619258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6508 | ACTL9 | Zornitza Stark Marked gene: ACTL9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6508 | ACTL9 | Zornitza Stark Gene: actl9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6497 | ACTL9 | Alison Yeung Classified gene: ACTL9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6497 | ACTL9 | Alison Yeung Gene: actl9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6485 | ACTL9 |
Elena Savva gene: ACTL9 was added gene: ACTL9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ACTL9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTL9 were set to PMID: 33626338 Phenotypes for gene: ACTL9 were set to Fertilization failure; male infertility Review for gene: ACTL9 was set to GREEN Added comment: Three families with homozygous pathogenic variants (two missense, one PTC). Single affected in each family. Functional analysis from patients shows all sperm had morphological defects, protein had reduced binding to ACTL7A All variants very rare in gnomAD. Sources: Literature |
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