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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 |