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| Mendeliome v2.276 | KIF6 | Rylee Peters Marked gene: KIF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.276 | KIF6 | Rylee Peters Gene: kif6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.276 | KIF6 |
Rylee Peters gene: KIF6 was added gene: KIF6 was added to Mendeliome. 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; Neurodevelopmental disorder, MONDO:0700092, KIF6-related Review for gene: KIF6 was set to RED Added comment: KIF6 encodes an 814‑amino‑acid kinesin involved in intracellular mRNA transport. 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. PMID: 30475797 describes a consanguineous family homozygous for a frameshift KIF6 variant (p.L398fsX2) presenting with macrocephaly, intellectual disability and developmental delay. Knock-in homozygous mouse model with analogous variant displayed severe, postnatal-onset hydrocephalus. Sources: Literature |
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