CHD5

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 mosaic change in the CHD5 gene was identified in a female, age 4, with seizures, global developmental delay, and optic nerve hypoplasia (read full description).

Date of Report

Feb 07, 2019

Full Name

chromodomain helicase DNA binding protein 5

Location

Chromosome 1 (1p36.31)

Function

The CHD5 gene codes for a protein important in chromatin remodeling, specifically in the nervous system (Thompson, et al., 2003)

Database Links

GeneCards: CHD5

NCBI Gene: 26038

OMIM: 610771

UniProtKB/Swiss-Prot: Q8TDI0

Clinical Significance

A de novo mosaic 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 CHD5

Inheritance Pattern Unknown

Position (hg19) chr1:g.6185587G>C

Transcript NM_015557.2

DNA Change c.4257C>G

Protein Change p.Ile1419Met

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