Activity
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6 actions
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| DDG2P v6.376 | TFAP2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFAP2A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TFAP2A | Achchuthan Shanmugasundram edited their review of gene: TFAP2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFAP2A-related branchiooculofacial syndrome are definitive, monoallelic_autosomal and undetermined (PMID:31490282). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00703.; Changed phenotypes to: OMIM:113620.0, TFAP2A-related branchiooculofacial syndrome, BRANCHIOOCULOFACIAL SYNDROME, OMIM:113620, MONDO:0007235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFAP2A | Achchuthan Shanmugasundram reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31490282; Phenotypes: BRANCHIOOCULOFACIAL SYNDROME, OMIM:113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TFAP2A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TFAP2A was changed from Other - please provide details in the comments to Other Publications for gene: TFAP2A were updated from to 31490282 |
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| DDG2P v0.2 | TFAP2A | Rebecca Foulger reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TFAP2A |
Rebecca Foulger gene: TFAP2A was added gene: TFAP2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME 113620 Mode of pathogenicity for gene: TFAP2A was set to Other - please provide details in the comments |
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