Segmental overgrowth disorders - Deep sequencing
Gene: NLRP2
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.Created: 31 Jan 2023, 4:22 p.m. | Last Modified: 31 Jan 2023, 4:22 p.m.
Panel Version: 3.2
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: 5 Oct 2022, 11:11 p.m. | Last Modified: 5 Oct 2022, 11:11 p.m.
Panel Version: 2.16
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, 5:02 p.m. | Last Modified: 29 Jun 2021, 5:02 p.m.
Panel Version: 2.14
Comment on mode of pathogenicity: Maternal NLRP2 variants result in epigenitic disturbance at sites in trans, eg: IC2 in imprinting region at 11p15.5 (PMID 19300480).Created: 29 Apr 2021, 3:25 p.m. | Last Modified: 29 Apr 2021, 3:25 p.m.
Panel Version: 2.12
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) and early embryonic arest, (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.
Sources: LiteratureCreated: 29 Apr 2021, 3:25 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475
Publications
Mode of pathogenicity
Other
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.
Gene: nlrp2 has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for gene: NLRP2 was changed from Other to Other
gene: NLRP2 was added gene: NLRP2 was added to Segmental overgrowth disorders. Sources: Literature Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NLRP2 were set to 26323243; 29574422; 19300480; 30877238; 33090377 Phenotypes for gene: NLRP2 were set to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 Mode of pathogenicity for gene: NLRP2 was set to Other Review for gene: NLRP2 was set to AMBER