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TBCK

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

Location
Chromosome 4 (4q24)


Function

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).

Gene TBCK
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
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