Genomics England
GMS Panels
Panels
Genes and Entities

NPR2

natriuretic peptide receptor 2
OMIM: 108961
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Maroteaux type 602875, Short stature with nonspecific skeletal abnormalities 616255, Epiphyseal chondrodysplasia, Miura type 615923