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Fetal anomalies

Gene: NPR2

Green List (high evidence)
NPR2 (natriuretic peptide receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000159899
EnsemblGeneIds (GRCh37): ENSG00000159899
OMIM: 108961, Gene2Phenotype
NPR2 is in 8 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

PMID: 40424589 Renes et al., 2025
Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement).

Brachydactyly is a consistent feature in recessive NPR2-related skeletal dysplasia (Acromesomelic dysplasia 1, Maroteaux type). Heterozygous individuals also present with skeletal features, limb disorders. Hence, consider MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Created: 5 Jun 2026, 2:15 p.m. | Last Modified: 26 Jun 2026, 10:31 a.m.
Panel Version: 7.22

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Short stature with nonspecific skeletal abnormalities, OMIM:616255

Publications

Created: 5 Jun 2026, 2:15 p.m.
Last Modified: 26 Jun 2026, 10:31 a.m.
Panel version: 7.11

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Short stature with nonspecific skeletal abnormalities, OMIM:616255
Tags
Q2_26_MOI
OMIM
108961
Clinvar variants
Variants in NPR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jun 2026, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Short stature with nonspecific skeletal abnormalities, OMIM:616255

26 Jun 2026, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: NPR2 were set to

5 Jun 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_26_MOI tag was added to gene: NPR2.

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NPR2 was added gene: NPR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE