Activity
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8 actions
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| DDG2P v6.296 | POLG | Achchuthan Shanmugasundram Publications for gene: POLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.295 | POLG | Achchuthan Shanmugasundram Mode of pathogenicity for gene: POLG was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | POLG | Achchuthan Shanmugasundram edited their review of gene: POLG: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POLG-related mitochondrial DNA depletion syndrome, Alpers type are definitive, biallelic_autosomal and undetermined (PMIDs: 15122711, 15929042, 16130100, 32391929). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01327.; Changed publications to: 32391929, 16130100, 15122711, 15929042; Changed phenotypes to: OMIM:203700.0, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A, OMIM:203700, MONDO:0008758, POLG-related mitochondrial DNA depletion syndrome, Alpers type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLG | Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A, OMIM:203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLG | Achchuthan Shanmugasundram Mode of pathogenicity for gene POLG was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.100 | POLG | Rebecca Foulger Phenotypes for gene: POLG were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 607459 to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POLG | Rebecca Foulger reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | POLG |
Rebecca Foulger gene: POLG was added gene: POLG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 607459 Mode of pathogenicity for gene: POLG was set to Other - please provide details in the comments |
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