If any of these participants sound like you or someone you know, please 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 this gene were identified in a female, age 5 with global developmental delay, absent speech, sparse hair, seizures, brain abnormalities, and short stature (read full description).
Apr 30, 2019
TBC1 domain containing kinase
The TBCK gene codes for a protein involved in the regulation of the mTOR signaling pathway (Liu et al. 2013).
Genetics Home Reference: TBCK
NCBI Gene: 93627
Changes in this gene were identified in a UDN participant and other individuals with similar symptoms (Bhoj et al. 2016).
Interested in learning more about this gene or sharing what you know? Contact us!