Gene: EP300 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927

2016
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933

2016
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 27964710

2016
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 27465822

2016
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 24476420

2015
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426

2015
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. 26279656

2015
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 24352918

2014
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. 20717166

2011
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. 20014264

2010
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. 19353645

2009
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986

2008
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. 17220215

2007
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. 17299436

2007
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development. 16428436

2006
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485

2005
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. 12114483

2002
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. 11331617

2001
dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963