EP300 is on the Developmental Disorders Genotype-Phenotype Database (DDG2P) because variants in the gene have been previously associated with specific developmental phenotypes. Below is a summary of information about the gene and characteristics of the relevant causal variant. Further information can be found in the DDG2P table.

Category Mode Disease Consequence
Confirmed Monoallelic Rubinstein-Taybi Syndrome Type 2 Loss of function