TAOK1

Below is a summary for the TAOK1 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full TAOK1 Gene Guide

The online Gene Guide includes more information about TAOK1 such as the chance of having another child with this condition, behavior and development concerns linked to TAOK1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is TAOK1-related Syndrome?

TAOK1-related syndrome happens when there are changes to the TAOK1 gene. These changes can keep the gene from working as it should.

Key Role

The TAOK1 gene plays a key role in brain development.

Symptoms

Because the TAOK1 gene is important in the development and function of brain cells, many people who have TAOK1-related syndrome have:

  • Developmental delay
  • Speech and language delay
  • Low muscle tone
  • Motor delays
  • Intellectual disability

How many people have TAOK1-related syndrome?

As of 2019, about 8 people in the world with changes in the TAOK1 gene had been described in the medical literature. The first case of TAOK1related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about the TAOK1 gene and connect with other Simons Searchlight families with the resources below:

+

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 TAOK1.

+

Research Article Summaries

We currently do not have any article summaries for TAOK1, but we add resources to our website as they become available.

The information available about TAOK1 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 TAOK1 articles can be found here.

+

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about TAOK1 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 TAOK1 families.

Click here to share your family’s story!