The full clinical spectrum of homozygous and heterozygous HEY2 variant carriers cannot yet be assessed because of ascertainment bias and the low number of patients described.
We would be happy to collaborate on any new HEY2 findings; such as variants found in families with CVDs, but also findings in large CVD datasets. Our aims are:
• to identify additional patients with mutations in HEY2
• to characterize the clinical spectrum
We would be happy to receive clinical and genetic information of HEY2 variant carriers. Clinicians can submit clinical data directly into the database. We are available for other HEY2 related collaborative requests.
HEY2