Activity
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| Likely inborn error of metabolism v8.94 | CMPK2 | Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CMPK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.94 | CMPK2 | Achchuthan Shanmugasundram commented on gene: CMPK2: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.93 | CMPK2 |
Achchuthan Shanmugasundram 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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| 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. |
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| 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 |
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