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
Amber CMPK2 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.11
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 Amber
    • Literature
    Phenotypes
    • Mitochondrial UMP-CMP kinase 2 deficiency
    • Developmental delay
    • Failure to thrive
    Tags
    • Q2_25_ promote_green
    Amber CMPK2 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    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 Amber
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018
    • basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875
    Tags
    • Q3_25_promote_green
    Amber CMPK2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    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 Amber
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018
    • basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875
    Tags
    • Q2_25_ promote_green