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Likely inborn error of metabolism v8.74 CMPK2 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: CMPK2.
Tag Q3_25_promote_green tag was added to gene: CMPK2.
Likely inborn error of metabolism v8.74 CMPK2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM last accessed on 28 October 2025.
Likely inborn error of metabolism v8.74 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
Likely inborn error of metabolism v8.73 CMPK2 Achchuthan Shanmugasundram reviewed gene: CMPK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.73 CMPK2 Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.34
Likely inborn error of metabolism v8.73 CMPK2 Achchuthan Shanmugasundram gene: CMPK2 was added
gene: CMPK2 was added to Likely inborn error of metabolism. 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