Research panel - Severe Paediatric Disorders
Gene: NPR2

NPR2 (natriuretic peptide receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000159899
EnsemblGeneIds (GRCh37): ENSG00000159899
OMIM: 108961, Gene2Phenotype
NPR2 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NPR2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Acromesomelic dysplasia, Maroteaux type, 602875 (3) | Epiphyseal chondrodysplasia, Miura type, 615923 (3) | Short stature with nonspecific skeletal abnormalities, 616255 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Short stature with nonspecific skeletal abnormalities, 616255
Epiphyseal chondrodysplasia, Miura type, 615923
Acromesomelic dysplasia, Maroteaux type, 602875

OMIM

108961

Clinvar variants

Variants in NPR2

Penetrance

None

Publications

30847515

Panels with this gene