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| Infertility and Recurrent Pregnancy Loss v0.231 | NLRP14 | Zornitza Stark Marked gene: NLRP14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.231 | NLRP14 | Zornitza Stark Gene: nlrp14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.231 | NLRP14 | Zornitza Stark Phenotypes for gene: NLRP14 were changed from Oocyte maturation defect and early embryo arrest to Inherited oocyte maturation defect, MONDO:0014769, NLRP14-related and early embryo arrest | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | NLRP14 | Zornitza Stark Classified gene: NLRP14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | NLRP14 | Zornitza Stark Gene: nlrp14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.80 | NLRP14 |
Jasmine Chew gene: NLRP14 was added gene: NLRP14 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: NLRP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NLRP14 were set to 38060382 Phenotypes for gene: NLRP14 were set to Oocyte maturation defect and early embryo arrest Review for gene: NLRP14 was set to AMBER Added comment: PMID: 38060382- Compound heterozygous variants (p.Cys428Profs∗28/p.Leu887delinsArgTyr) reported in an infertile woman with oocyte maturation defects and early embryo arrest (EEA). - Functional analysis showed comparable protein levels compared with the wild-type control, although a truncated band of the expected size (47 kDa) was observed for the p.Cys428Profs∗28 variant. -The truncated variant, p.Cys428Profs∗28, is lacking the LRR domain and, hence, completely loses the ability to bind with UHRF1. The p.Leu887delinsArgTyr variant results in significant alteration in binding modes with decreased binding area and binding free energy, which introduced regional instability in the NLRP14-UHRF1 interaction. The interaction of both variants and UHRF1 was disrupted and might lead to increased UHRF1 protein degradation in oocytes. Sources: Literature |
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