NPR3

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 2.8

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Boudin-Mortier syndrome, MONDO:0859194

Green NPR3 in Mendeliome


Version 2.636

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Boudin-Mortier syndrome, MONDO:0859194

Green NPR3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.153

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Boudin-Mortier syndrome, MONDO:0859194