Activity
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6 actions
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| DDG2P v6.377 | TFAP2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFAP2B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TFAP2B | Achchuthan Shanmugasundram edited their review of gene: TFAP2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFAP2B-related Char syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 10802654, 11505339, 7645594). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00497.; Changed publications to: 11505339, 7645594, 10802654; Changed phenotypes to: OMIM:169100.0, CHAR SYNDROME, OMIM:169100, MONDO:0008209, TFAP2B-related Char syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFAP2B | Achchuthan Shanmugasundram reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10802654, 11505339, 7645594; Phenotypes: CHAR SYNDROME, OMIM:169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TFAP2B |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TFAP2B was changed from Other - please provide details in the comments to Other Publications for gene: TFAP2B were updated from 11505339; 10802654; 7645594 to 10802654; 11505339; 7645594 |
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| DDG2P v0.2 | TFAP2B | Rebecca Foulger reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TFAP2B |
Rebecca Foulger gene: TFAP2B was added gene: TFAP2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TFAP2B were set to 11505339; 10802654; 7645594 Phenotypes for gene: TFAP2B were set to CHAR SYNDROME 169100 Mode of pathogenicity for gene: TFAP2B was set to Other - please provide details in the comments |
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