Mitochondrial disorders

Gene: CMPK2

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 11 Mar 2026, 11:31 a.m. | Last Modified: 11 Mar 2026, 11:31 a.m.

Panel Version: 9.43

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: 9.35

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