GENE REFERENCE / HGNC:13733

CDH23

cadherin related 23

protein-coding gene10q22.1Gene information

What does this gene do?

The CDH23 gene provides instructions for making cadherin 23, a type of protein that helps cells stick together. Different versions of this protein are made in different cell types, including a short version in the retina, which is the light-sensitive layer in the back of the eye, and a longer version in the inner ear. Cadherin 23 interacts with other proteins in the cell membrane as part of a protein complex that is involved in cell attachment.

Research suggests that the cadherin 23 protein complex helps to shape structures in the inner ear called hair bundles. These structures are made of stereocilia, which are hairlike projections that bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which are then transmitted to the brain. Stereocilia are also elements of the vestibular system, the part of the inner ear that helps maintain the body's balance and orientation in space. Bending of these stereocilia is needed to transmit signals from the vestibular system to the brain.

In the retina, the role of the cadherin 23 protein complex is less well understood. Studies suggest that it plays a critical role in the function of photoreceptor cells, which are specialized cells that detect light and color.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-03-20. Source review: 2016-05.

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
nonsyndromic genetic hearing lossMONDO:0019497 · Evaluated 2018-05-22	Autosomal recessive	DefinitiveHearing Loss 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: 6,536
Submissions for variants in or overlapping this gene: 12,865
Submissions explicitly reporting this gene: 12,584
Alleles reported pathogenic / likely pathogenic: 795
VariationIDs with uncertain significance: 2,215
VariationIDs with conflicting classifications: 395

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 CDH23?

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 795 alleles in CDH23 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 CDH23.

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

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