GENE REFERENCE / HGNC:1917

CHD2

chromodomain helicase DNA binding protein 2

protein-coding gene15q26.1Gene information

What does this gene do?

The CHD2 gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Chromodomain DNA helicase protein 2 appears to play an important role in the brain, although its function is not well understood. Research suggests that it may help control development or functioning of nerve cells (neurons).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-06.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
complex neurodevelopmental disorderMONDO:0100038 · Evaluated 2022-07-14	Autosomal dominant	DefinitiveEpilepsy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 2,711
Submissions for variants in or overlapping this gene: 3,969
Submissions explicitly reporting this gene: 3,823
Alleles reported pathogenic / likely pathogenic: 413
VariationIDs with uncertain significance: 969
VariationIDs with conflicting classifications: 120

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CHD2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 413 alleles in CHD2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CHD2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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