1. Genes and Genomic Entities
  2. NT5C

NT5C

5', 3'-nucleotidase, cytosolic
OMIM: 191720, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red NT5C in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)
Red NT5C in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

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

    		•  review Unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)