Likely inborn error of metabolism

Gene: CMPK2

Green List (high evidence)

Comment on phenotypes: OMIM last accessed on 28 October 2025.

Created: 28 Oct 2025, 2:50 p.m. | Last Modified: 28 Oct 2025, 2:50 p.m.

Panel Version: 8.74

As this gene has been proposed for promotion to green rating on the Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/CMPK2/) in the next GMS update, this gene should also be promoted to green rating on this panel.

Created: 28 Oct 2025, 2:48 p.m. | Last Modified: 28 Oct 2025, 2:48 p.m.

Panel Version: 8.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

CMPK2 variants have been associated with Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018. Three CMPK2 variants have been reported in at two unrelated cases, where segregation of the variants with the condition was established. Supportive functional studies were also presented (PMID 36443312).

Created: 16 Apr 2025, 12:25 p.m. | Last Modified: 16 Apr 2025, 12:25 p.m.

Panel Version: 8.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018; basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875

Green List (high evidence)

Mitochondrial UMP-CMP kinase is a component of the salvage pathway for nucleotide synthesis.
IEM Nosology Group (IEMbase): Disorders of mitochondrial DNA depletion, multiple deletion, or intergenomic communication.
The CMPK2 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of mitochondrial DNA maintenance and replication.
Sources: Literature

Created: 22 Jul 2021, 11:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• PMID: 33340416