Activity
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| White matter disorders and cerebral calcification - narrow panel v7.15 | CMPK2 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: CMPK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.15 | CMPK2 | Achchuthan Shanmugasundram reviewed gene: CMPK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.14 | 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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| White matter disorders and cerebral calcification - narrow panel v6.10 | CMPK2 | Sarah Leigh Entity copied from Mitochondrial disorders v8.24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.10 | CMPK2 |
Sarah Leigh 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 |
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