If any of these participants sound like you or someone you know, please contact us!Contact Us
On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Changes in the ATP2C2 gene were identified in a male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), and excess curvature of the spine (kyphosis, scoliosis) (read full description).
Feb 21, 2019
ATPase secretory pathway Ca2+ transporting 2
The ATP2C2 gene plays a role in the regulation of calcium in the cell (Vanoevelen et al., 2005)
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!