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| Monogenic short stature v1.28 | NLRP2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620332) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.28 | NLRP2 | Achchuthan Shanmugasundram Phenotypes for gene: NLRP2 were changed from Maternal effect gene- causing phenotypes that include IUGR to Oocyte/zygote/embryo maturation arrest 18, OMIM:620332; oocyte/zygote/embryo maturation arrest 18, MONDO:0957230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.76 | NLRP2 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.76 | NLRP2 |
Arina Puzriakova gene: NLRP2 was added gene: NLRP2 was added to Monogenic short stature. Sources: Expert list,Expert Review Amber watchlist tags were added to gene: NLRP2. Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP2 were set to 26323243; 29574422; 19300480; 30877238; 33090377 Phenotypes for gene: NLRP2 were set to Maternal effect gene- causing phenotypes that include IUGR Penetrance for gene: NLRP2 were set to unknown |
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