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 17, with intellectual disability, history of leukemia, heart abnormalities, and multiple abnormal bone and cartilage growths (osteochondromas) (read full description).

Date of Report

Jun 03, 2019

Full Name

SRY-box 5

Chromosome 12 (12p12.1)


The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. It has been associated with Lamb-Shaffer syndrome, which is characterized by global developmental delay, intellectual disability, speech delay and mild dysmorphic facial features (Lamb et al., 2012).

Database Links

GeneCards: SOX5

NCBI Gene: 6660 

OMIM: 604975

UniProtKB/Swiss-Prot: P35711

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene SOX5
Inheritance Pattern Autosomal dominant
Position (hg19) chr12:chr12:g.24048772_ 24048773del
Transcript NM_006940.5
DNA Change c.224_225delAA
Protein Change p.Gln75ArgfsTer6
Contact Us

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