ANK2

Below is a summary for the ANK2 gene observed in research publications. This is not meant to take the place of medical advice.

What does the ANK2 gene do?

ANK2 plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

How many people have a de novo gene change in ANK2?

As of 2019, researchers had found fewer than 10 people in the world with autism or neurodevelopmental disorders and changes in the ANK2 gene. The first case of this condition was found in 2012. Scientists expect to find more people who have the condition as access to genetic testing improves.

How are people who have changes in ANK2 treated?

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
Guide individualized education plans (IEPs).

If seizures happen, consult a neurologist. There are many different types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: www.epilepsy.com/learn/types-seizures.

Do people who have de novo changes in the ANK2 gene look different?

We do not yet know if people who have de novo genetic changes in the ANK2 gene look consistently different from others.

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!