Advice and support for our rare CASK families

UK CASK registry

We need every family to register their loved one with our UK CASK registry. It is essential that we have an accurate count of the number of cases of CASK disorders in the UK. 

UK map showing where families with CASK are located

It can be lonely and isolating living with a CASK gene disorder. Our map is bi-annually updated to show where our families are located. Please get in touch if you’d like to be put in touch with a local family. This map can’t exist without families registering with the UK registry. If you can’t find your family on the map then make sure you’ve registered with our registry.

A map of the UK with red dots on indicating where patients with CASK live.

Have you signed up to the CASK data collection programme yet?

Since we are a tiny community it is so important for every family to register with the community registry, or the data collection programme (DCP), as it is formally called. This is a patient owned database that collates and collects de-personalised medical information of children with CASK.  

Interested in helping with research to help your child?

We have a growing number of research studies for you get to get involved in. These range from online surveys to donating biosamples.  On occasions we are asked not to publish study opportunities publicly. On these occasions we will email patients/carers using our mailing list. Please therefore ensure you are registered and on our mailing list here.

Support for CASK gene mutation families


Advice, ideas, understanding CASK gene mutations and links to services that can help


CASK gene related disorders are a spectrum of conditions. No two children are the same. Each will write their own destiny.

Common issues

Some medical conditions are more common in those with CASK gene mutations.

CASK families are not alone. Our close community each have their own individual story. Read about their journeys

Family stories

Stories from UK families living with a diagnosis.

Newly diagnosed

Advice from families living with a CASK gene mutation.

Activating CASK in enough cells could reverse CASK gene disorder symptoms

Useful publications

Read the research on CASK or direct your clinicians to this information.

The charity Unique has created this informative guide on CASK related disorders. Please download.

We are always in need of photos for our promotional materials. Please download the photo permission form and return to us with some photos of your amazing CASK children.