ANK2
The information for this summary of ANK2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full ANK2 Gene Guide
The online Gene Guide includes more information about ANK2 such as the chance of having another child with this condition, behavior and development concerns linked to ANK2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
ANK2-related syndrome is also called ankyrin-B syndrome. For this webpage, we will be using the name ANK2-related syndrome to encompass the wide range of variants observed in the people identified. Variants in the ANK2 gene can also cause cardiac arrhythmia, ankyrin-B-related or long QT syndrome 4, which are both heart-related conditions. This webpage includes information on the neurodevelopmental condition.
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What is ANK2-related syndrome?
ANK2-related syndrome happens when there are changes in the ANK2 gene. These changes can keep the gene from working as it should.
Key Role
ANK2 plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.
Symptoms
Because the ANK2 gene is important for brain activity, many people who have ANK2-related syndrome have:
- Developmental delay
- Intellectual disability
- Speech impairment
- Behavioral issues, including autism
- Cardiac issues
- Seizures
How many people have ANK2-related syndrome?
As of 2026, about 16 people with ANK2-related syndrome have been described in medical research.
Learn more about the ANK2 gene and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – ANK2 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – ANK2
GeneReviews
Gene Reviews 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.
ANK2 gene changes are known to be associated with LQTS (the GeneReviews linked here). Long QT syndrome caused by the ANK2 gene change is known as Long QT 4.
Check out the GeneReviews for LQTS.
Research Article Summaries
We currently do not have any article summaries for ANK2, but we add resources to our website as they become available.
The information available about ANK2 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 ANK2 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 ANK2 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 ANK2 families.
Click here to share your family’s story!