CMPK2

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CMPK2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

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

Amber CMPK2 in Mendeliome


Version 2.0

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 2.0

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