NPPC

natriuretic peptide C
OMIM: 600296, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red NPPC in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • short stature and non-specific skeletal anomalies - MONDO#0014551

Red NPPC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review Unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Overgrowth syndrome with 2q37 translocations