Genomics England
GMS Panels
Panels
Genes and Entities

CMPK2

cytidine/uridine monophosphate kinase 2
OMIM: 611787
PanelMode of inheritanceDetails
3 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018, basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018, basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial UMP-CMP kinase 2 deficiency, Developmental delay, Failure to thrive