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| Infertility and Recurrent Pregnancy Loss v0.114 | NLRP2 | Zornitza Stark Marked gene: NLRP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.114 | NLRP2 | Zornitza Stark Gene: nlrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.114 | NLRP2 | Zornitza Stark Classified gene: NLRP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.114 | NLRP2 | Zornitza Stark Gene: nlrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.63 | NLRP2 |
Jasmine Chew gene: NLRP2 was added gene: NLRP2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: NLRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NLRP2 were set to 30877238; 39585517; 39905760 Phenotypes for gene: NLRP2 were set to Oocyte/zygote/embryo maturation arrest 18, MIM# 620332 Review for gene: NLRP2 was set to GREEN Added comment: Literature in OMIM- PMID: 30877238 (>3 unrelated infertile women due to early embryonic arrest with different biallelic variants) New papers (biallelic variants for EEA): i) PMID: 39585517- A novel homozygous protein-truncating (p.Tyr66Thrfs*32) in an infertile female with early embryonic arrest, which resulted in the down-regulation of NLRP2 mRNA expression, truncation of the protein structure, and altered protein localization in cells. ii) PMID: 39905760- Novel compound heterozygous protein-truncating variants ( p.Leu443Phefs*78 and p.Arg935Metfs*15) in a female with primary infertility, four early miscarriages, and one failed attempt of ICSI. The two variants mediate mRNA decay in EBV-transformed lymphoblastoid cells from the patient, lead to decreased NLRP2 protein levels, and alter NLRP2 interactions with other members of the SCMC in vitro. Sources: Literature |
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