Activity
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6 actions
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| DDG2P v6.371 | TAB2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAB2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TAB2 | Achchuthan Shanmugasundram edited their review of gene: TAB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAB2-related nonsyndromic congenital heart disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 20493459, 27479907). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01246.; Changed phenotypes to: OMIM:612863.0, CONGENITAL HEART DISEASE, NONSYNDROMIC, 2, OMIM:612863, TAB2-related nonsyndromic congenital heart disease, MONDO:0013025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAB2 | Achchuthan Shanmugasundram reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 20493459; Phenotypes: CONGENITAL HEART DISEASE, NONSYNDROMIC, 2, OMIM:612863; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TAB2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TAB2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAB2 | Rebecca Foulger reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TAB2 |
Rebecca Foulger gene: TAB2 was added gene: TAB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TAB2 were set to 27479907; 20493459 Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863 Mode of pathogenicity for gene: TAB2 was set to Other - please provide details in the comments |
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