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| Mendeliome v2.0 | DNAH3 | Gene migrated from ENSG00000158486 to ENSG00000158486 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5015 | DNAH3 | Rylee Peters Marked gene: DNAH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5015 | DNAH3 | Rylee Peters Gene: dnah3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5015 | DNAH3 |
Rylee Peters changed review comment from: PMIDs 38312775, 39588341 and 39503742 report nine individuals with biallelic loss‑of‑function DNAH3 variants causing severe asthenoteratozoospermia (multiple morphological abnormalities of the sperm flagella). Functional studies show reduced DNAH3 protein in patient sperm and infertility in Dnah3‑knockout mice. Sources: Literature; to: PMIDs 38312775, 39588341 and 39503742 report nine individuals with biallelic DNAH3 variants causing severe asthenoteratozoospermia (multiple morphological abnormalities of the sperm flagella). Functional studies show reduced DNAH3 protein in patient sperm and infertility in Dnah3‑knockout mice. Sources: Literature |
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| Mendeliome v1.5015 | DNAH3 | Rylee Peters Classified gene: DNAH3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5015 | DNAH3 | Rylee Peters Gene: dnah3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5014 | DNAH3 |
Rylee Peters gene: DNAH3 was added gene: DNAH3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DNAH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH3 were set to 39588341; 39503742; 38312775 Phenotypes for gene: DNAH3 were set to Male infertility, MONDO:0005372, DNAH3-related Review for gene: DNAH3 was set to GREEN Added comment: PMIDs 38312775, 39588341 and 39503742 report nine individuals with biallelic loss‑of‑function DNAH3 variants causing severe asthenoteratozoospermia (multiple morphological abnormalities of the sperm flagella). Functional studies show reduced DNAH3 protein in patient sperm and infertility in Dnah3‑knockout mice. Sources: Literature |
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