GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: NPR2

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

acromesomelic dysplasias, Overgrowth (tall stature) syndromes with skeletal involvement. Several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

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

OMIM

108961

Clinvar variants

Variants in NPR2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: NPR2 was added gene: NPR2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NPR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type 602875; Short stature with nonspecific skeletal abnormalities 616255; Epiphyseal chondrodysplasia, Miura type 615923

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: NPR2