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Infertility and Recurrent Pregnancy Loss

Gene: MOS

Green List (high evidence)

MOS (MOS proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000172680
EnsemblGeneIds (GRCh37): ENSG00000172680
OMIM: 190060, Gene2Phenotype
MOS is in 2 panels

1 review

Jasmine Chew (Other)

Green List (high evidence)

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: Literature
Created: 24 Apr 2025, 1:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oocyte/zygote/embryo maturation arrest 20, MIM# 620383

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 20, MIM# 620383
OMIM
190060
Clinvar variants
Variants in MOS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mos has been classified as Green List (High Evidence).

25 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mos has been classified as Green List (High Evidence).

24 Apr 2025, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Jasmine Chew (Other)

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