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Mitochondrial disease

Gene: CMPK2

Amber List (moderate evidence)
CMPK2 (cytidine/uridine monophosphate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000134326
EnsemblGeneIds (GRCh37): ENSG00000134326
OMIM: 611787, Gene2Phenotype
CMPK2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from two unrelated families reported. One family (two sibs) with homozygous start loss variant, and the other family with compound het variants. Adult-onset neurodegenerative disorder. Extensive functional data including mouse model. Evidence of underlying mitochondrial dysfunction.
Sources: Literature
Created: 8 Dec 2024, 12:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related

Publications

Created: 8 Dec 2024, 12:02 a.m.

Panel version: 0.957

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related
OMIM
611787
Clinvar variants
Variants in CMPK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cmpk2 has been classified as Amber List (Moderate Evidence).

8 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cmpk2 has been classified as Amber List (Moderate Evidence).

8 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cmpk2 has been classified as Amber List (Moderate Evidence).

8 Dec 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CMPK2 was added gene: CMPK2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CMPK2 were set to 36443312 Phenotypes for gene: CMPK2 were set to bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Review for gene: CMPK2 was set to AMBER