PanelApp (test)
  1. Genes and Genomic Entities
  2. NT5E:Ensemblv90

NT5E:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NT5E in Mendeliome


Version 1.3802

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 0.8

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  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

    Green NT5E in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 1.0

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