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CDH26

Synonyms
VR20
External resources
Summary
This gene encodes a member of the cadherin protein family. Cadherins are a family of calcium-dependent adhesion molecules that mediate cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization, migration and differentiation. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This protein is expressed in gastrointestinal epithelial cells and may be upregulated during allergic inflammation. This protein interacts with alpha integrins and may also be involved in leukocyte migration and adhesion.

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
229
Likely pathogenic
0
VUS
4,476
Likely benign
1,070
Benign
0

Patient phenotypes

Proportions of phenotypes among 229 patients carring pathogenic or likely pathogenic variants on CDH26 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.9%
Abnormality of the cardiovascular system
26.6%
Abnormality of the musculoskeletal system
24%
Abnormality of head or neck
18.8%
Abnormality of the eye
14.8%
Abnormality of the ear
13.5%
Growth abnormality
13.1%
Abnormality of the genitourinary system
8.3%
Abnormality of the digestive system
7.9%
Abnormality of the immune system
7.9%
Abnormality of the integument
7%
Abnormality of limbs
5.7%
Abnormality of blood and blood-forming tissues
3.1%
Abnormality of prenatal development or birth
2.2%
Abnormality of the endocrine system
1.7%
Abnormality of the respiratory system
1.7%
Constitutional symptom
1.7%
Abnormality of the voice
1.3%
Neoplasm
0.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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