NPR3

natriuretic peptide receptor 3
OMIM: 108962, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green NPR3 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Boudin-Mortier syndrome, MIM#619543
  • Tall stature, skeletal abnormalities, aortic dilatation

Green NPR3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Boudin-Mortier syndrome, MIM#619543
  • Tall stature, skeletal abnormalities, aortic dilatation