ASXL2

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 the ASXL2 gene was identified in a male, age 8 who is larger than average (macrosomia), has a large birthmark on his forehead (glabellar hemangioma), a decrease in brain white matter (cerebral white matter atrophy), and learning difficulties (Shashi-Pena syndrome) (read full description).

Date of Report

Jul 01, 2016

Full Name

Additional sex combs-like 2

Location

Chromosome 2 (2p23.3)

Function

The ASXL2 gene is the human homolog of the Drosophila asx gene. The asx gene enhances the function of a gene that codes for a protein involved in transcriptional activation and silencing (Katoh and Katoh, 2003).

Database Links

GeneCards: ASXL2

NCBI Gene: 55252

OMIM: 612991

UniProtKB/Swiss-Prot: Q76L83

Clinical Significance

A change in this gene was identified in a UDN participant and other patients with similar symptoms (Shashi et al, 2016 ) (OMIM 617190).

Families affected by this condition have formed a Facebook group to connect with one another and share information. More information about the condition can be found on the ASXL Rare Research Endowment website.

Gene ASXL2

Inheritance Pattern Autosomal dominant

Position (hg19) chr2:g.25966785del

Transcript NM_018263.5

DNA Change c.2424del

Protein Change p.Thr809ProfsTer32

Contact Us

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