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.

Date of Report

Jun 04, 2018

Full Name


Chromosome 17 (17q23.2)


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

Database Links

GeneCards: GC17P061399

NCBI Gene: 6909

OMIM: 600747

UniProtKB/Swiss-Prot: Q13207

Clinical Significance

A change in the TBX2 gene was identified in a UDN participant, his mother, his sister, and one other patient with similar symptoms (Liu et al. 2018).

The following change was identified in the UDN participant and his family members:

Gene TBX2
Inheritance Pattern autosomal dominant
Position chr17:59477596
Transcript NM_005994.3
DNA Change c.59G>A
Protein Change p.R20Q
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