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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | CREBBP | Eleanor Williams reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | CREBBP |
Eleanor Williams Source Expert Review Green was added to CREBBP. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | CREBBP |
Eleanor Williams gene: CREBBP was added gene: CREBBP was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CREBBP were set to Congenital or cystic renal disease; Rubinstein-Taybi syndrome 1; Nephropathy of unknown origin; MIM 180849; Glomerulopathy |
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