1. Genes and Genomic Entities
  2. NT5E

NT5E

5'-nucleotidase ecto
OMIM: 129190, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green NT5E in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.39
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Calcification of joints and arteries, OMIM:211800
    • hereditary arterial and articular multiple calcification syndrome, MONDO:0008895
    Green NT5E in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.105
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Calcification of joints and arteries, OMIM:211800
    • hereditary arterial and articular multiple calcification syndrome, MONDO:0008895
    Red NT5E in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.184
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • arterial calcification
    • joint calcification