SLC6A1

Below is a summary for the SLC6A1 gene observed in research publications. This is not meant to take the place of medical advice.

Access the Full SLC6A1 Gene Guide

The online Gene Guide includes more information about SLC6A1 such as the chance of having another child with this condition, behavior and development concerns linked to SLC6A1 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

Latest Registry Report Download Report

The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).

Please take our surveys to contribute to this 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 Registry Reports” at the bottom of this page.

What is SLC6A1 -related syndrome?

SLC6A1 -related syndrome happens when there are changes to the SLC6A1 gene. These changes can keep the gene from working as it should.

Key Role

The SLC6A1 gene plays a key role in communication between brain cells.

Symptoms

Because the SLC6A1 gene is important in the development and function of brain cells, many people who have SLC6A1 -related syndrome have:

Intellectual disability
Speech delay
Seizures
Behavior issues, including attention deficit hyperactivity disorder, aggression, and features of autism

Support Resources

Simons Searchlight Community – SLC6A1 Facebook group
SLC6A1 Connect – SLC6A1Connect.org
SLC6A1 Connect – Facebook page
SLC6A1 Connect – Facebook group
Geisinger Developmental Brain Disorder Gene Database – SLC6A1

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. Check out the GeneReviews for SLC6A1 .

Presentations

SLC6A1 2019 Virtual Family Meeting

Research Article Summaries

We currently do not have any article summaries for SLC6A1, but we add resources to our website as they become available.

The information available about SLC6A1 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 SLC6A1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

Stories from SLC6A1 families:

Click here to share your family’s story!

Previous Registry Reports