NT5C3A

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green NT5C3A in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.106

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anemia, hemolytic, due to UMPH1 deficiency 266120

Green NT5C3A in Rare anaemia


Version 1.40
Latest signed off version: v1.2 (3 Mar 2020)

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

Green NT5C3A in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Literature
Phenotypes
  • Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)
  • Anemia, hemolytic, due to UMPH1 deficiency, 266120

Green NT5C3A in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Anemia, hemolytic, due to UMPH1 deficiency, 266120
    • Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)

    Red NT5C3A in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY

    Green NT5C3A in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120

    Amber NT5C3A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Anemia, hemolytic, due to UMPH1 deficiency, 266120

    Red NT5C3A in Childhood onset dystonia or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green NT5C3A in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Anemia, hemolytic, due to UMPH1 deficiency, 266120