Below is a summary for the KATNAL2 gene observed in research publications. This is not meant to take the place of medical advice.

What is KATNAL2-related syndrome?

KATNAL2-related syndrome happens when there are changes in the KATNAL2 gene. These changes can keep the gene from working as it should.

Key Role

The KATNAL2 gene plays an important role in the central nervous system.


Because the KATNAL2 gene is important for the brain, some people may have:

  • Developmental delay
  • Autism

How many people have KATNAL2-related syndrome?

KATNAL2-related syndrome is very rare. As of 2022, about 6 people in the world with a KATNAL2 genetic variant have been described in medical research.


Support Resources


Research Article Summaries

We currently do not have any article summaries for KATNAL2, but we add resources to our website as they become available.

The information available about KATNAL2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 KATNAL2 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 KATNAL2 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 KATNAL2 families.

Click here to share your family’s story!