XIRP2

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.

Compound heterozygous changes in the XIRP2 gene were identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well treated and controlled (read full description).

Date of Report

Feb 23, 2023

Full Name

Xin Actin Binding Repeat Containing 2

Location

Chromosome 2 (2q24.3)

Function

The XIRP2 gene is responsible for protecting actin filaments from depolymerization (Pacholsky et al., 2004).

Database Links

GeneCards: XIRP2

NCBI Gene: 129446

OMIM: 609778

UniProtKB/Swiss-Prot: A4UGR9

Clinical Significance

Compound heterozygous changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene XIRP2

Inheritance Pattern Unknown

Position (hg19) chr2:g.168115691G>A & g.168100020G>T

Transcript NM_001079810.3 & NM_001199144.2

DNA Change c.2635G>A & c.1452G>T

Protein Change p.Asp879Asn & p.Gln484His

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