Below is a summary for the TBR1 gene observed in research publications. This is not meant to take the place of medical advice.

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.


Many people who have TBR1-related syndrome have:
• Autism spectrum disorder, also called ASD
• Speech and language delay
• Intellectual disability

Do people who have TBR1-related syndrome look different?

People who have TBR1-related syndrome do not look very different.


Support Resources

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


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.

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.


Family Stories

Stories from TBR1 families:

Click here to share your family’s story!