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)
Chr1.6185587.png

Function

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

Database Links

GeneCards: GC01M006103

NCBI Gene: 26038

OMIM: 610771

UniProtKB/Swiss-Prot: Q8TDI0

Clinical Significance

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

Gene CHD5
Inheritance Pattern Unknown
Position Chr1:6185587
Transcript NM_015557
DNA Change c.4257C>G (mosaic)
Protein Change p.I1419M
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