Below is a summary for the EP300 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full EP300 Gene Guide

The online Gene Guide includes more information about EP300 such as the chance of having another child with this condition, behavior and development concerns linked to EP300-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome happens when there are changes to the CREBBP gene or the EP300 gene. These changes can keep these genes from working as they should.

Key Role

The CREBBP and EP300 genes play a key role in controlling the activity of other genes.


Because the CREBBP and EP300 genes are important in the development of the body, many people who have Rubinstein-Taybi syndrome have:

  • Intellectual disability
  • Growth problems and short height
  • Behavior issues
  • Changes in facial features and the hands and feet

How many people have Rubinstein-Taybi syndrome?

As of 2019, about 300 people in the world with Rubinstein-Taybi syndrome had been described in the medical literature. The first case of Rubinstein-Taybi syndrome was described in 1995. Scientists estimate that the condition happens in 1 in 100,000 to 1 in 125,000 live births.


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for EP300.


Research Article Summaries

We currently do not have any article summaries for EP300, but we add resources to our website as they become available.

The information available about EP300 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for EP300 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about EP300 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

We do not currently have any stories from EP300 families.

Click here to share your family’s story!