Below is a summary for the RIMS1 gene observed in research publications. This is not meant to take the place of medical advice.

What is RIMS1-related syndrome?

RIMS1-related syndrome happens when there are changes to the RIMS1 gene. These changes can keep the gene from working as it should.

Genetic variants in RIMS1 can also cause another condition called cone-rod dystrophy that causes vision loss. The information below focuses on genetic variants that lead to a neurodevelopmental condition.

Key Role

The RIMS1 gene is important for the function and development of brain cells.


Because the RIMS1 gene is important for the brain, some people may have:

  • Autism
  • Intellectual disability

Do people who have RIMS1-related syndrome look different?

RIMS1-related syndrome is very rare, and it is unknown if people with this condition look different.

How many people have RIMS1-related syndrome?

As of 2022, about 13 people with RIMS1-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 RIMS1.


Research Article Summaries

We currently do not have any article summaries for RIMS1, but we add resources to our website as they become available.

The information available about RIMS1 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 RIMS1 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 RIMS1 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 RIMS1 families.

Click here to share your family’s story!