SETD2

Below is a summary for the SETD2 gene observed in research publications. This is not meant to take the place of medical advice.

What is SETD2-related syndrome?

SETD2-related syndrome happens when there are changes to the SETD2 gene. These changes can keep the gene from working as it should.

Key Role

The SETD2 gene controls the activity of other genes and is important for brain function.

Symptoms

Because the SETD2 gene is important in the development and function of brain cells, many people who have SETD2-related syndrome have:

  • Intellectual disability
  • Speech delay
  • Larger head size
  • Obesity

Do people who have SETD2-related syndrome look different?

Some people who have SETD2-related syndrome may have a large head.

+

Support Resources

+

GeneReviews

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.

There is currently no GeneReviews for SETD2.

+

Research Article Summaries

We currently do not have any article summaries for SETD2, but we add resources to our website as they become available.

The information available about SETD2 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 SETD5 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 SETD2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

+

Family Stories

We do not currently have any stories from SETD2 families.

Click here to share your family’s story!