NPR3:Ensemblv90

natriuretic peptide receptor 3
OMIM: 108962, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NPR3 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

1 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 1.3802

1 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

Green NPR3 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

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