Activity
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6 actions
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| DDG2P v6.251 | MMP14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MMP14 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MMP14 | Achchuthan Shanmugasundram edited their review of gene: MMP14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MMP14-related Winchester syndrome are limited, biallelic_autosomal and undetermined (PMID:22922033). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01317.; Changed phenotypes to: OMIM:277950.0, MMP14-related Winchester syndrome, MONDO:0010201, WINCHESTER SYNDROME, OMIM:277950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP14 | Achchuthan Shanmugasundram reviewed gene: MMP14: Rating: RED; Mode of pathogenicity: Other; Publications: 22922033; Phenotypes: WINCHESTER SYNDROME, OMIM:277950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MMP14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP14 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMP14 | Rebecca Foulger reviewed gene: MMP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MMP14 |
Rebecca Foulger gene: MMP14 was added gene: MMP14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP14 were set to 22922033 Phenotypes for gene: MMP14 were set to WINCHESTER SYNDROME Mode of pathogenicity for gene: MMP14 was set to Other - please provide details in the comments |
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