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 9.1
Latest signed off version: v9.0 (6 May 2026)

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 9.1
    Latest signed off version: v9.0 (6 May 2026)

    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 7.1
    Latest signed off version: v7.0 (6 May 2026)

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