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| Infertility and Recurrent Pregnancy Loss v0.124 | OOEP | Zornitza Stark Marked gene: OOEP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.124 | OOEP | Zornitza Stark Gene: ooep has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.124 | OOEP | Zornitza Stark Phenotypes for gene: OOEP were changed from Recurrent preimplantation embryonic arrest to Recurrent preimplantation embryonic arrest; Female infertility due to oocyte meiotic arrest, MONDO:0044626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.123 | OOEP | Zornitza Stark Classified gene: OOEP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.123 | OOEP | Zornitza Stark Gene: ooep has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.80 | OOEP | Jasmine Chew edited their review of gene: OOEP: Changed phenotypes: Recurrent preimplantation embryonic arrest, Female infertility due to oocyte meiotic arrest, MONDO:0044626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.80 | OOEP |
Jasmine Chew gene: OOEP was added gene: OOEP was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OOEP were set to 35946397 Phenotypes for gene: OOEP were set to Recurrent preimplantation embryonic arrest Review for gene: OOEP was set to AMBER Added comment: i) PMID: 35946397- Compound heterozygous missense variants (p.Arg37Gly and p.Arg37Pro) identified in a patient who experienced recurrent preimplantation embryonic arrest. - Immunofluorescence and western blot analysis showed that both variants lead to reduced OOEP protein expression compared with that in the wild type. - Transcriptomic analysis showed that mutant OOEPâaffected embryos had downregulation of gene transcripts, indicating that substantial number of mRNAs were not transcribed or were decayed in the affected embryo. The GO analysis results revealed that these downregulated genes were mainly enriched in protein binding, translation, mRNA processing, and mitochondrial function. ii) PMID: 39379527- showed functionally that the two reported variants result in significantly destabilizing intercomponent interactions among the subcortical maternal complex (SCMC) subunits. Sources: Literature |
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