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Infertility and Recurrent Pregnancy Loss v0.112 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Infertility and Recurrent Pregnancy Loss v0.112 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v0.112 MRPS22 Zornitza Stark Classified gene: MRPS22 as Amber List (moderate evidence)
Infertility and Recurrent Pregnancy Loss v0.112 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v0.111 MRPS22 Zornitza Stark reviewed gene: MRPS22: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 7, MIM# 618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v0.103 MRPS22 Jasmine Chew gene: MRPS22 was added
gene: MRPS22 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS22 were set to 29566152; 31042289
Phenotypes for gene: MRPS22 were set to Ovarian dysgenesis 7, MIM# 618117
Review for gene: MRPS22 was set to GREEN
Added comment: PMID:29566152, 31042289- Two homozygous missense variants (p.Arg202His and p.Arg135Gln) reported in independent families with POI. Mitochondrial defects in oxidative phosphorylation or rRNA levels were not detected in fibroblasts derived from the POI patients, Drosophila model with mRpS22 deficiency specifically in germ cells were infertile and agametic. Heterozygous MRPS22 knockout mice are fertile and show no overt abnormalities. Homozygous MRPS22 knockout results in embryonic lethality.
Sources: Literature