1. Panels
  2. Growth failure
  3. NLRP2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Growth failure

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

A number of patients with IUGR and failure of catch up have an imprinting error (within the spectrum of Silver Russell syndrome) 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 multi-locus imprinting disturbance through methylation testing or vice versa, methylation abnormalities in offspring may prompt genomic evaluation of the mother.

Current trio filtering protocols may not account for this adequately.
Created: 16 Aug 2021, 12:57 a.m. | Last Modified: 16 Aug 2021, 12:57 a.m.
Panel Version: 0.145

Mode of inheritance
Other

Phenotypes
IUGR

Publications

Created: 16 Aug 2021, 12:57 a.m.
Last Modified: 16 Aug 2021, 12:57 a.m.
Panel version: 0.146

Details

Mode of Inheritance
Other
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Maternal effect gene- causing phenotypes that include IUGR
OMIM
609364
Clinvar variants
Variants in NLRP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Aug 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NLRP2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other

19 Jul 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NLRP2 was added gene: NLRP2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber 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 30877238; 33090377; 29574422; 26323243; 19300480 Phenotypes for gene: NLRP2 were set to Maternal effect gene- causing phenotypes that include IUGR