CMPK2

cytidine/uridine monophosphate kinase 2
OMIM: 611787, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CMPK2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.99

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related

    Amber CMPK2 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related

    Amber CMPK2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related