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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
90
Likely pathogenic
21
VUS
28,310
Likely benign
14,894
Benign
11,479

Patient phenotypes

Proportions of phenotypes among 104 patients carrying pathogenic or likely pathogenic variants on CDH23 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
31.7%
Abnormality of the nervous system
27.9%
Abnormality of the eye
16.3%
Abnormality of the musculoskeletal system
15.4%
Abnormality of the cardiovascular system
13.5%
Abnormality of head or neck
9.6%
Growth abnormality
6.7%
Abnormality of the digestive system
5.8%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the integument
4.8%
Abnormality of limbs
3.8%
Abnormality of the immune system
3.8%
Abnormality of the genitourinary system
2.9%
Neoplasm
1.9%
Abnormality of prenatal development or birth
1%
Abnormality of the endocrine system
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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