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| Infertility and Recurrent Pregnancy Loss v1.38 | INCENP |
Rylee Peters gene: INCENP was added gene: INCENP was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: INCENP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INCENP were set to 41005306 Phenotypes for gene: INCENP were set to Oocyte/zygote/embryo maturation arrest MONDO:0014769, INCENP-related Review for gene: INCENP was set to AMBER Added comment: 3 unrelated women presenting with abnormal oocyte morphology and/or low fertilisation rate from a large cohort of 3627 individuals. WES identified biallelic missense variants: R267Q (gnomAD v4: 1717 hets, 12 homs), R280W (5 hets, 0 homs), P444L (207 hets, 0 homs), R693W (686 hets, 1 hom), K816T (110 hets, 1 hom), K890E (3 hets, 0 homs). siRNA-mediated knock-down of INCENP in mouse oocytes reduced polar-body extrusion rates, demonstrating that loss of function of the protein affects oocyte maturation. Sources: Literature |
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