CMPK2

cytidine/uridine monophosphate kinase 2
OMIM: 611787, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
No list CMPK2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Mitochondrial UMP-CMP kinase 2 deficiency Developmental delay Failure to thrive

Panel

Reviews

Mode of inheritance

Details

No list CMPK2 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Childhood onset leukodystrophy

review

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

Mitochondrial UMP-CMP kinase 2 deficiency
Developmental delay
Failure to thrive