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TBX2

On this page, you will find information about a genetic change that was 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.

A change in this gene was identified in a male, age 10, with features reminiscent of DiGeorge syndrome (read full description).

Date of Report

Jun 04, 2018

Full Name

T-BOX 2

Location
Chromosome 17 (17q23.2)
TBX2-chr17-59477596_horiz.png

Function

The TBX2 gene codes for a transcription factor that is thought to be important in regulating development (Harrelson et al., 2004).

Database Links

GeneCards: TBX2

NCBI Gene: 6909

OMIM: 600747

UniProtKB/Swiss-Prot: Q13207

Clinical Significance

A change in the this gene was identified in a UDN participant, his mother, his sister, and one other patient with similar symptoms (Liu et al. 2018).

Gene TBX2
Inheritance Pattern Autosomal dominant
Position (hg19) chr17:g.59477596G>A
Transcript NM_005994.3
DNA Change c.59G>A
Protein Change p.Arg20Gln
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