CMPK2:Ensemblv90

cytidine/uridine monophosphate kinase 2
OMIM: 611787, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CMPK2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

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

    Amber CMPK2 in Mendeliome


    Version 1.3802

    1 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 0.1299

    Component of the following Super Panels:

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

    Amber CMPK2 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

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