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).

Date of Report

Apr 30, 2019

Full Name

TBC1 domain containing kinase

Chromosome 4 (4q24)


The TBCK gene codes for a protein involved in the regulation of the mTOR signaling pathway (Liu et al. 2013).

Database Links

GeneCards: GC04M106041

Genetics Home Reference: TBCK

NCBI Gene: 93627

OMIM: 616899

UniProtKB/Swiss-Prot: Q8TEA7

Clinical Significance

Changes in this gene were identified in a UDN participant and other individuals with similar symptoms (Bhoj et al. 2016).

Inheritance Pattern Autosomal recessive
Position Chr4:107170140; Chr4:107066118_107101467
Transcript NM_001163435.2
DNA Change c.659-1G>A; 35kb deletion
Protein Change N/A
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!