Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Infertility and Recurrent Pregnancy Loss v0.49 | PRDM9 | Zornitza Stark Marked gene: PRDM9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.49 | PRDM9 | Zornitza Stark Gene: prdm9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.49 | PRDM9 | Zornitza Stark Classified gene: PRDM9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.49 | PRDM9 | Zornitza Stark Gene: prdm9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.17 | PRDM9 |
Jasmine Chew gene: PRDM9 was added gene: PRDM9 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM9 were set to 34257419 Phenotypes for gene: PRDM9 were set to Primary ovarian insufficiency, MONDO:0005387 Review for gene: PRDM9 was set to GREEN Added comment: i) PMID: 34257419 (2021): 3 heterozygous variants in 4 unrelated premature ovarian insufficiency (POI) patients (P1,2- p.Arg77*, P3- p.Lys226Met, P4- p.Ile213Ser); All mutant proven to affect the H3K4 methyltransferase activity of the protein and more apoptotic oocytes were observed in Prdm9+/- mice ovaries indicating the heterozygous knockout oocytes were more susceptible to exogenous stress. Sources: Literature |