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CDH23

Synonyms
CDHR23, PITA5, USH1D
External resources
Summary
This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
45
Likely pathogenic
748
VUS
19,683
Likely benign
26,995
Benign
3,152

Patient phenotypes

Proportions of phenotypes among 792 patients carring pathogenic or likely pathogenic variants on CDH23 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.4%
Abnormality of the musculoskeletal system
23%
Abnormality of head or neck
20.3%
Abnormality of the ear
12.5%
Growth abnormality
11.7%
Abnormality of the eye
11.1%
Abnormality of the genitourinary system
8.2%
Abnormality of the cardiovascular system
8.1%
Abnormality of blood and blood-forming tissues
7.2%
Abnormality of limbs
4.8%
Abnormality of the immune system
3.8%
Abnormality of the digestive system
3.5%
Abnormality of the integument
2.9%
Abnormality of the endocrine system
2.3%
Abnormality of the respiratory system
1.6%
Abnormality of prenatal development or birth
1.5%
Neoplasm
0.6%
Constitutional symptom
0.3%
Abnormal cellular phenotype
0.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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