TBR1

The information for this summary of TBR1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full TBR1 Gene Guide

The online Gene Guide includes more information about TBR1 such as the chance of having another child with this condition, behavior and development concerns linked to TBR1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

Latest Quarterly Report Download Report

The latest Simons Searchlight report includes updated information on your genetic community and features key insights from 2024 research surveys. It showcases the power of your contributions and how this data advances research.

If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is TBR1-related Syndrome?

TBR1-related syndrome happens when there are changes to the TBR1 gene. These changes can keep the gene from working as it should.

Key Role

TBR1 plays a key role in the growth of the brain.

Symptoms

Because the TBR1 gene is important for brain activity, many people who have TBR1-related syndrome have:

Autism spectrum disorder
Speech and language delay
Global developmental delay
Intellectual disability
Delayed walking
Delayed speaking or absent speech
Brain changes seen on magnetic resonance imaging (MRI)

How many people have TBR1-related syndrome?

As of 2024, at least 61 people with TBR1-related syndrome have been identified in a medical clinic.

Support Resources

Simons Searchligh Community – TBR1 Facebook group
Geisinger Developmental Brain Disorder Gene Database – TBR1
TBR1 Syndrome website

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 TBR1.

Research Article Summaries

We currently do not have any article summaries for TBR1, but we add resources to our website as they become available.

The information available about TBR1 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 TBR1 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 TBR1 genetic changes by taking part in our research. You can learn more about the project and sign up here.