NT5E

5'-nucleotidase ecto
OMIM: 129190, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green NT5E in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Calcification of joints and arteries, MIM# 211800

Green NT5E in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • hereditary arterial and articular multiple calcification syndrome MONDO:0008895