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| Mendeliome v1.4016 | DNALI1 | Zornitza Stark Marked gene: DNALI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4016 | DNALI1 | Zornitza Stark Gene: dnali1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4016 | DNALI1 | Zornitza Stark Classified gene: DNALI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4016 | DNALI1 | Zornitza Stark Gene: dnali1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4015 | DNALI1 |
Zornitza Stark gene: DNALI1 was added gene: DNALI1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DNALI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNALI1 were set to 40298292; 38212584; 36792588; 36726469 Phenotypes for gene: DNALI1 were set to Spermatogenic failure, MONDO:0004983, DNALI1-related Review for gene: DNALI1 was set to GREEN Added comment: PMIDs 36726469, 36792588, 38212584 and 40298292 report four unrelated individuals from four families with biallelic loss‑of‑function DNALI1 variants (c.691_693del, c.663_666del, c.464‑1G>A, c.490dup) causing male infertility characterised by severe asthenozoospermia/asthénoteratozoospermia. The variants segregate as autosomal recessive and functional studies—including a mouse knockout recapitulating infertility, TEM showing loss of inner dynein arms, immunofluorescence loss of DNALI1 protein, and a minigene splicing assay demonstrating exon skipping—support loss‑of‑function as the disease mechanism. Sources: Literature |
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