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-Pena syndrome) (Shashi et al, 2016 ).

Gene ASXL2

Inheritance Pattern Autosomal dominant

Position (hg19) chr2:g.25966785del

Transcript NM_018263.5

DNA Change c.2424del

Protein Change p.Thr809ProfsTer32

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