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| Mendeliome v1.4752 | MOV10L1 | Zornitza Stark Classified gene: MOV10L1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4752 | MOV10L1 | Zornitza Stark Gene: mov10l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4751 | MOV10L1 | Zornitza Stark edited their review of gene: MOV10L1: Added comment: PMIDs 35413094 and 39122675 report five individuals from five unrelated families with biallelic MOV10L1 variants presenting with non‑obstructive azoospermia due to spermatogenic failure (maturation arrest). Immunohistochemistry, minigene splicing assays, and piRNA‑seq demonstrate loss of MOV10L1 expression and disrupted piRNA biogenesis, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 39122675, 35413094; Changed phenotypes: Infertility disorder, MONDO:0005047, MOV10L1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14181 | MOV10L1 | Zornitza Stark Marked gene: MOV10L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14181 | MOV10L1 | Zornitza Stark Gene: mov10l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14181 | MOV10L1 | Zornitza Stark Classified gene: MOV10L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14181 | MOV10L1 | Zornitza Stark Gene: mov10l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14180 | MOV10L1 |
Zornitza Stark gene: MOV10L1 was added gene: MOV10L1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: MOV10L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOV10L1 were set to 35476666; 20534472 Phenotypes for gene: MOV10L1 were set to Spermatogenic failure 73, MIM#619878 Review for gene: MOV10L1 was set to AMBER Added comment: Two unrelated individuals and a mouse model. Sources: Expert list |
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