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CHD2

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 this gene was identified in a female, age 5, with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect (read full description).

Date of Report

Sep 28, 2021

Full Name

chromodomain helicase DNA binding protein 2

Location
Chromosome 15 (15q26.1)
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Function

The CHD2 gene codes for a member of the chromodomain helicase DNA-binding family of proteins. These proteins regulate gene expression through chromatin remodeling (Carvill et al., 2013).

Database Links

GeneCards: CHD2

MedlinePlus Genetics: CHD2

NCBI Gene: 1106 

OMIM: 602119

UniProtKB/Swiss-Prot: O14647

Clinical Significance

Changes in the CHD2 gene have been found in individuals with childhood-onset epileptic encephalopathy (OMIM).

The following de novo genetic change was also identified in a UDN participant. In addition to this change, there is a nearby deletion of the non-coding gene CHASERR.  These changes may cause overexpression of CHD2 leading to the participant’s symptoms.

Gene CHD2
Inheritance Pattern Autosomal dominant
Position (hg19) chr15:g.93443759G>C
Transcript NM_001271.3
DNA Change c.-367G>C
Protein Change N/A
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