NCKAP1
Below is a summary for the NCKAP1 gene observed in research publications. This is not meant to take the place of medical advice.
What is NCKAP1-related syndrome?
NCKAP1-related syndrome happens when there are changes in the NCKAP1 gene. These changes can keep the gene from working as it should.
Key Role
The NCKAP1 gene plays an important role in the structure and organization of cells in the brain.
Symptoms
Because the NCKAP1 gene is important for the brain, some people may have:
- Autism
- Language issues
- Motor delay
- Intellectual or learning disability
- Anxiety
- Repetitive behaviors
- Aggressive behaviors
- Psychotic episodes
Do people who have NCKAP1-related syndrome look different?
People who have NCKAP1-related syndrome do not look different.
How many people have NCKAP1-related syndrome?
As of 2022, about 24 people in the world with NCKAP1-related syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – NCKAP1 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – NCKAP1
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 NCKAP1.
Research Article Summaries
We currently do not have any article summaries for NCKAP1, but we add resources to our website as they become available.
The information available about NCKAP1 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 NCKAP1 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 NCKAP1 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 NCKAP1 families.
Click here to share your family’s story!