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| Mendeliome v1.2762 | KIAA1683 | Zornitza Stark Marked gene: KIAA1683 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2762 | KIAA1683 | Zornitza Stark Gene: kiaa1683 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2762 | KIAA1683 | Zornitza Stark Classified gene: KIAA1683 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2762 | KIAA1683 | Zornitza Stark Gene: kiaa1683 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2761 | KIAA1683 |
Zornitza Stark gene: KIAA1683 was added gene: KIAA1683 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: KIAA1683 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1683 were set to 36321563; 39872118; 37140151; 37184908; 40437858 Phenotypes for gene: KIAA1683 were set to Spermatogenic failure 78, #MIM 620170 Review for gene: KIAA1683 was set to GREEN Added comment: Literature in OMIM entry- PubMed: 36321563, 39872118, 37140151, 37184908 (>3 unrelated Chinese men with infertility due to spermatogenic failure with hom/com het variants). New paper: i) PMID: 40437858 (2025)- novel hom p.Trp796Ter in infertile man with fertilization failure and history of two miscarriages with his partner. According to the prediction of protein conformations, it was found that the protein conformations were truncated in the mutated IQCN gene, which probably affected the function of the patient's sperm. Sources: Expert list |
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