TBCK

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.

Changes in this gene were identified in UDN participants (read full descriptions: Participant 075, Participant 150).

Date of Report

Apr 02, 2020

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

NCBI Gene: 93627

OMIM: 616899

UniProtKB/Swiss-Prot: Q8TEA7

Clinical Significance

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:

  • c.659-1G>A (inheritance pattern: unknown (de novo), position: chr4:g.107170140C>T, transcript: NM_001163435.2)
  • 35kb deletion including exon 23 (position: chr4:g.107066118_107101467del; transcript: NM_001163435.2)

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:

  • c.1775-5106_2235+2392del and c.456-2A>G (position: chr4: 106168705-106217943, chr4: 106252009; transcript: NM_001163436.2; genome build: GRCh38)
Gene TBCK
Inheritance Pattern Autosomal recessive
Position (hg19) see gene page
Transcript see gene page
DNA Change see gene page
Protein Change see gene page
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