Activity
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7 actions
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| DDG2P v6.379 | TGFB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TGFB1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TGFB1 | Achchuthan Shanmugasundram edited their review of gene: TGFB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TGFB1-related Camurati-Engelmann disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 10973241, 11062463, 15103729). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00412.; Changed publications to: 15103729, 11062463, 10973241; Changed phenotypes to: TGFB1-related Camurati-Engelmann disease, CAMURATI-ENGELMANN DISEASE, OMIM:131300, OMIM:131300.0, MONDO:0007542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TGFB1 | Achchuthan Shanmugasundram reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062463, 15103729, 10973241; Phenotypes: CAMURATI-ENGELMANN DISEASE, OMIM:131300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TGFB1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFB1 was changed from Other - please provide details in the comments to Other Publications for gene: TGFB1 were updated from 10973241; 15103729; 11062463 to 11062463; 15103729; 10973241 |
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| DDG2P v2.82 | TGFB1 | Arina Puzriakova Phenotypes for gene: TGFB1 were changed from CAMURATI-ENGELMANN DISEASE 131300 to Camurati-Engelmann disease, OMIM:131300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGFB1 | Rebecca Foulger reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TGFB1 |
Rebecca Foulger gene: TGFB1 was added gene: TGFB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFB1 were set to 10973241; 15103729; 11062463 Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE 131300 Mode of pathogenicity for gene: TGFB1 was set to Other - please provide details in the comments |
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