Activity
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8 actions
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| DDG2P v6.117 | COL6A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL6A1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | COL6A1 | Achchuthan Shanmugasundram edited their review of gene: COL6A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL6A1-related myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 11932968, 15955946, 36779064, 8782832). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01750.; Changed publications to: 15955946, 36779064, 8782832, 11932968; Changed phenotypes to: MONDO:0024530, COL6A1-related myopathy, COL6A1 associated myopathy, OMIM:158810.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A1 | Achchuthan Shanmugasundram reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: COL6A1 associated myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL6A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL6A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.78 | COL6A1 | Eleanor Williams commented on gene: COL6A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | COL6A1 | Dmitrijs Rots reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy, Ulrich myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL6A1 | Rebecca Foulger reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL6A1 |
Rebecca Foulger gene: COL6A1 was added gene: COL6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy Mode of pathogenicity for gene: COL6A1 was set to Other - please provide details in the comments |
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