PanelApp (test)
  1. Genes and Genomic Entities
  2. NT5C3A

NT5C3A

5'-nucleotidase, cytosolic IIIA
OMIM: 606224, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NT5C3A in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120

Green NT5C3A in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120

Green NT5C3A in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Anemia, hemolytic, due to UMPH1 deficiency MIM#266120
    • disorder of pyrimidine metabolism

    Red NT5C3A in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120

    Green NT5C3A in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • disorder of pyrimidine metabolism
    • Anemia, hemolytic, due to UMPH1 deficiency MIM#266120