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On this page, you will find information about genetic changes that were identified in UDN participants. 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.
Apr 02, 2020
TBC1 domain containing kinase
The TBCK gene codes for a protein involved in the regulation of the mTOR signaling pathway (Liu et al. 2013).
Changes in this gene were identified in two UDN participants and other individuals with similar symptoms (Bhoj et al. 2016).
The changes identified in the UDN participants are as follows:
Participant 075, a 5-year-old female with global developmental delay, absent speech, sparse hair, seizures, brain abnormalities, and short stature was found to carry the following genetic changes in the TBCK gene:
Participant 150, a 7 year-old female with respiratory failure, feeding difficulties, and global developmental delay was found to carry the following genetic changes in the TBCK gene:
Interested in learning more about this gene or sharing what you know? Contact us!