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| DDG2P v3.12 | CREBBP | Achchuthan Shanmugasundram reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 12114483, 12566391, 30737887, 20684013, 29460469, 27311832, 7630403, 11331617; Phenotypes: RUBINSTEIN-TAYBI SYNDROME TYPE 1, OMIM:180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CREBBP | Achchuthan Shanmugasundram Publications for gene: CREBBP were updated from 27311832 to 12114483; 12566391; 30737887; 20684013; 29460469; 27311832; 7630403; 11331617 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CREBBP | Rebecca Foulger reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CREBBP |
Rebecca Foulger Added phenotypes CREBBP intellectual disability without typical RTS features for gene: CREBBP Publications for gene CREBBP were changed from 12114483; 12566391; 7630403; 11331617; 20684013 to 27311832 |
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| DDG2P v0.1 | CREBBP |
Rebecca Foulger gene: CREBBP was added gene: CREBBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREBBP were set to 12114483; 12566391; 7630403; 11331617; 20684013 Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849 |
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