Infertility and Recurrent Pregnancy Loss
Gene: MOS
Literature in OMIM- PMID: 34779126; 34997960; 35670744; 36403623- >3 unrelated women with infertility due to early/preimplantation embryonic arrest and fragmentation carrying different biallelic variants. All variants except I197M had functional evidence showing that mutant proteins showed reduced activation/phosphorylation of the MOS downstream targets compared to wildtype MOS.
Note: couldn't find new case reports
Sources: LiteratureCreated: 24 Apr 2025, 1:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oocyte/zygote/embryo maturation arrest 20, MIM# 620383
Publications
Gene: mos has been classified as Green List (High Evidence).
Gene: mos has been classified as Green List (High Evidence).
gene: MOS was added gene: MOS was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: MOS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOS were set to 34779126; 34997960; 35670744; 36403623 Phenotypes for gene: MOS were set to Oocyte/zygote/embryo maturation arrest 20, MIM# 620383 Review for gene: MOS was set to GREEN