Genomics England
GMS Panels
Panels
Genes and Entities

NPR3

natriuretic peptide receptor 3
OMIM: 108962
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enhanced Growth and Connective Tissue Abnormalities
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tall stature, arachnodactyly, extra epiphyses, aortic dilatation