Activity
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6 actions
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| DDG2P v6.159 | EZH2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: EZH2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EZH2 | Achchuthan Shanmugasundram edited their review of gene: EZH2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EZH2-related Weaver syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 24214728, 26694085, 26762561, 30793471). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01503.; Changed publications to: 26694085, 24214728, 26762561, 30793471; Changed phenotypes to: MONDO:0010193, WEAVER SYNDROME 2, OMIM:614421, OMIM:277590.0, EZH2-related Weaver syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EZH2 | Achchuthan Shanmugasundram reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: WEAVER SYNDROME 2, OMIM:614421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EZH2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EZH2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EZH2 | Rebecca Foulger reviewed gene: EZH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EZH2 |
Rebecca Foulger gene: EZH2 was added gene: EZH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2 614421 Mode of pathogenicity for gene: EZH2 was set to Other - please provide details in the comments |
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