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Segmental overgrowth disorders - Deep sequencing

Gene: NLRP2

Amber List (moderate evidence)
NLRP2 (NLR family pyrin domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000022556
EnsemblGeneIds (GRCh37): ENSG00000022556
OMIM: 609364, Gene2Phenotype
NLRP2 is in 3 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

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.
Created: 18 Dec 2025, 9:56 p.m. | Last Modified: 18 Dec 2025, 9:56 p.m.
Panel Version: 4.4
Created: 18 Dec 2025, 9:56 p.m.
Last Modified: 18 Dec 2025, 9:56 p.m.
Panel version: 4.4

Arina Puzriakova (Genomics England Curator)

I don't know

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
Created: 31 Jan 2023, 4:22 p.m.
Last Modified: 31 Jan 2023, 4:22 p.m.
Panel version: 3.2

Eleanor Williams (Genomics England Curator)

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
Created: 5 Oct 2022, 11:11 p.m.
Last Modified: 5 Oct 2022, 11:11 p.m.
Panel version: 2.16

Sarah Leigh (Genomics England Curator)

I don't know

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: Literature
Created: 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

Created: 29 Apr 2021, 3:25 p.m.

Panel version: 2.14

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 18, OMIM:620332
  • oocyte/zygote/embryo maturation arrest 18, MONDO:0957230
  • Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, MONDO:0016475
OMIM
609364
Clinvar variants
Variants in NLRP2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NLRP2 were changed from Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 to Oocyte/zygote/embryo maturation arrest 18, OMIM:620332; oocyte/zygote/embryo maturation arrest 18, MONDO:0957230; Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, MONDO:0016475

31 Jan 2023, Gel status: 2

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: NLRP2. Tag Q3_22_expert_review was removed from gene: NLRP2.

5 Oct 2022, Gel status: 2

Removed Tag, Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

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.

29 Jun 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: NLRP2.

29 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nlrp2 has been classified as Amber List (Moderate Evidence).

29 Apr 2021, Gel status: 1

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: NLRP2 was changed from Other to Other

29 Apr 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

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