1. Genes and Genomic Entities
  2. CMPK2

CMPK2

cytidine/uridine monophosphate kinase 2
OMIM: 611787, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CMPK2 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.18
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Mitochondrial UMP-CMP kinase 2 deficiency
    • Developmental delay
    • Failure to thrive
    Green CMPK2 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.100
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018
    • basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875
    Green CMPK2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018
    • basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875