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| Mendeliome v1.4531 | PIWIL1 | Zornitza Stark Marked gene: PIWIL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4531 | PIWIL1 | Zornitza Stark Gene: piwil1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4531 | PIWIL1 | Zornitza Stark Classified gene: PIWIL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4531 | PIWIL1 | Zornitza Stark Gene: piwil1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4530 | PIWIL1 |
Zornitza Stark gene: PIWIL1 was added gene: PIWIL1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PIWIL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIWIL1 were set to 41706354; 39122675; 37335463; 36379263; 33877510; 28552346 Phenotypes for gene: PIWIL1 were set to Infertility disorder, MONDO:0005047, PIWIL1-related Review for gene: PIWIL1 was set to AMBER Added comment: PMID 28552346 reports three unrelated families with heterozygous PIWIL1 missense variants causing idiopathic azoospermia; mouse knock‑in and rescue experiments provide functional support. PMID 41706354 and PMID 39122675 describe two unrelated families with recessive loss‑of‑function PIWIL1 frameshift/stop‑gain variants leading to non‑obstructive azoospermia and spermatogenic arrest, confirmed by immunohistochemistry and piRNA profiling. PMID 37335463 identifies a compound‑heterozygous patient and four heterozygous carriers of rare missense/truncating PIWIL1 variants, and a Miwi R371W knock‑in mouse recapitulates subfertility. Sources: Literature |
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