Activity
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| Mitochondrial disorders v9.43 | CMPK2 | Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: CMPK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.43 | CMPK2 | Ida Ertmanska reviewed gene: CMPK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.42 | CMPK2 |
Ida Ertmanska 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) |
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| Mitochondrial disorders v9.35 | CMPK2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM last accessed on 28 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.35 | CMPK2 | Achchuthan Shanmugasundram Phenotypes for gene: CMPK2 were changed from Mitochondrial UMP-CMP kinase 2 deficiency; Developmental delay; Failure to thrive to Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018; basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.24 | CMPK2 | Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: CMPK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.24 | CMPK2 | Sarah Leigh reviewed gene: CMPK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018, basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.24 | CMPK2 | Sarah Leigh Classified gene: CMPK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.24 | CMPK2 | Sarah Leigh Gene: cmpk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.23 | CMPK2 | Sarah Leigh Publications for gene: CMPK2 were set to 33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.22 | CMPK2 | Sarah Leigh Publications for gene: CMPK2 were set to PMID: 33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | CMPK2 |
Andžela Lazdāne gene: CMPK2 was added gene: CMPK2 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CMPK2 were set to PMID: 33340416 Phenotypes for gene: CMPK2 were set to Mitochondrial UMP-CMP kinase 2 deficiency; Developmental delay; Failure to thrive Review for gene: CMPK2 was set to GREEN Added comment: 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 |
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