Activity
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6 actions
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| DDG2P v6.380 | TK2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TK2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TK2 | Achchuthan Shanmugasundram edited their review of gene: TK2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TK2-related mitochondrial DNA depletion syndrome, myopathic form are definitive, biallelic_autosomal and undetermined (PMIDs: 11687801, 12391347, 12873860, 35280287, 35750291). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01507.; Changed publications to: 35750291, 12873860, 35280287, 12391347, 11687801; Changed phenotypes to: MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM, OMIM:258276, TK2-related mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301, OMIM:609560.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TK2 | Achchuthan Shanmugasundram reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM, OMIM:258276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TK2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TK2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TK2 | Rebecca Foulger reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TK2 |
Rebecca Foulger gene: TK2 was added gene: TK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276 Mode of pathogenicity for gene: TK2 was set to Other - please provide details in the comments |
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