Below is a summary for the PACS2 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full PACS2 Gene Guide

The online Gene Guide includes more information about PACS2 such as the chance of having another child with this condition, behavior and development concerns linked to PACS2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is PACS2-related syndrome?

PACS2-related syndrome happens when there are changes in the PACS2 gene. These changes can keep the gene from working as it should.

Key Role

The PACS2 gene plays an important role in the life cycle of cells, and it is important for communication for different structures within cells.


Because the PACS2 gene is important for many parts of the body, some people may have:

  • Seizures
  • Developmental delay
  • Intellectual disability
  • Autism
  • Delayed walking and speech
  • Low muscle tone
  • Heart defects
  • Genital issues in males

How many people have PACS2-related syndrome?

As of 2024, about 32 people with PACS2-related syndrome have been described in medical research.


Support Resources



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 PACS2.



Research Article Summaries

We currently do not have any article summaries for PACS2, but we add resources to our website as they become available.

The information available about PACS2 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 PACS2 articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about PACS2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

We do not currently have any stories from PACS2 families.

Click here to share your family’s story!