Growth failure in early childhood
Gene: NLRP2After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBERCreated: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 6 Oct 2022, 1:31 p.m. | Last Modified: 6 Oct 2022, 1:31 p.m.
Panel Version: 1.110
The Q2_21_expert_review tag has been added for the TEWG to consider whether or not the epigenetic effects of maternal variants in NLRP2 have in their children is appropriate for a Green gene rating.Created: 29 Jun 2021, 5:01 p.m. | Last Modified: 29 Jun 2021, 5:01 p.m.
Panel Version: 1.71
Maternal bialliec variants may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arrest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.Created: 29 Apr 2021, 3:18 p.m. | Last Modified: 29 Jun 2021, 1:37 p.m.
Panel Version: 1.71
Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances.Created: 2 Feb 2021, 2:06 p.m. | Last Modified: 2 Feb 2021, 2:06 p.m.
Panel Version: 1.48
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.Created: 29 Jan 2021, 11 a.m. | Last Modified: 29 Jan 2021, 11 a.m.
Panel Version: 1.34
Phenotypes
Maternal effect gene- causing phenotypes that include IUGR.
Publications
Tag Q3_22_rating was removed from gene: NLRP2. Tag Q3_22_expert_review was removed from gene: NLRP2.
Tag Q2_21_expert_review was removed from gene: NLRP2. Tag Q3_22_rating tag was added to gene: NLRP2. Tag Q3_22_expert_review tag was added to gene: NLRP2.
Tag Q2_21_expert_review tag was added to gene: NLRP2.
Publications for gene: NLRP2 were set to 26323243; 29574422; 19300480; 30877238; 33090377
Publications for gene: NLRP2 were set to 26323243; 29574422
Tag watchlist tag was added to gene: NLRP2.
Gene: nlrp2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NLRP2 were changed from to Maternal effect gene- causing phenotypes that include IUGR
Publications for gene: NLRP2 were set to PMID: 2632; 3243
gene: NLRP2 was added gene: NLRP2 was added to Growth failure in early childhood. Sources: Expert list 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 PMID: 2632; 3243 Penetrance for gene: NLRP2 were set to unknown