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PTCH2

Synonyms
PTC2
External resources
Summary
This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants 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
56
Likely pathogenic
38
VUS
1,455
Likely benign
659
Benign
145

Patient phenotypes

Proportions of phenotypes among 90 patients carring pathogenic or likely pathogenic variants on PTCH2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.6%
Abnormality of the cardiovascular system
21.1%
Abnormality of the musculoskeletal system
20%
Abnormality of the ear
18.9%
Abnormality of head or neck
17.8%
Abnormality of the eye
14.4%
Growth abnormality
13.3%
Abnormality of blood and blood-forming tissues
7.8%
Abnormality of the digestive system
7.8%
Abnormality of the integument
7.8%
Abnormality of limbs
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the endocrine system
4.4%
Neoplasm
3.3%
Abnormality of prenatal development or birth
2.2%
Abnormality of the immune system
2.2%
Constitutional symptom
2.2%
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%

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