White matter disorders and cerebral calcification - narrow panel
Gene: CMPK2EnsemblGeneIds (GRCh38): ENSG00000134326
EnsemblGeneIds (GRCh37): ENSG00000134326
OMIM: 611787, Gene2Phenotype
CMPK2 is in 3 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 12 Mar 2026, 9:56 a.m. | Last Modified: 12 Mar 2026, 9:56 a.m.
Panel Version: 7.15
Sarah Leigh (Genomics England Curator)
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
Andžela Lazdāne (Children's Clinical University Hospital of Latvia)
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: LiteratureCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Mitochondrial UMP-CMP kinase 2 deficiency
- Developmental delay
- Failure to thrive
- OMIM
- 611787
- Clinvar variants
- Variants in CMPK2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: CMPK2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to CMPK2. Source Expert Review Green was added to CMPK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: CMPK2 was added gene: CMPK2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber Q2_25_ promote_green tags were added to gene: CMPK2. Mode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CMPK2 were set to 33340416; 36443312 Phenotypes for gene: CMPK2 were set to Mitochondrial UMP-CMP kinase 2 deficiency; Developmental delay; Failure to thrive