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| Infertility and Recurrent Pregnancy Loss v2.27 | KIF6 | Rylee Peters Marked gene: KIF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.27 | KIF6 | Rylee Peters Gene: kif6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.27 | KIF6 | Rylee Peters Publications for gene: KIF6 were set to 42348434; 30475797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.26 | KIF6 |
Rylee Peters changed review comment from: PMID: 42348434 reports two unrelated families with homozygous KIF6 variants (p.T442Sfs*3; p.E474K) causing severe asthenozoospermia with complete sperm immotility. Knock-in mouse models carrying the patient variants recapitulated the human infertility phenotypes. Hydrocephalus also observed in the mouse model for the frameshift variant. The missense variant, p.E474K has 182 hets, 1 hom in v4. Sources: Literature; to: PMID: 42348434 reports two unrelated families with homozygous KIF6 variants (p.T442Sfs*3; p.E474K) causing severe asthenozoospermia with complete sperm immotility. Knock-in mouse models carrying the patient variants recapitulated the human infertility phenotypes. Hydrocephalus also observed in the mouse model for the frameshift variant. The missense variant, p.E474K has 182 hets, 1 hom in v4. Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v2.26 | KIF6 |
Rylee Peters gene: KIF6 was added gene: KIF6 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: KIF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF6 were set to 42348434; 30475797 Phenotypes for gene: KIF6 were set to Infertility disorder, MONDO:0005047, KIF6-related Review for gene: KIF6 was set to RED Added comment: PMID: 42348434 reports two unrelated families with homozygous KIF6 variants (p.T442Sfs*3; p.E474K) causing severe asthenozoospermia with complete sperm immotility. Knock-in mouse models carrying the patient variants recapitulated the human infertility phenotypes. Hydrocephalus also observed in the mouse model for the frameshift variant. The missense variant, p.E474K has 182 hets, 1 hom in v4. Sources: Literature |
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