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PTCH1

Synonyms
BCNS, NBCCS, PTC, PTC1, PTCH
External resources
Summary
This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly.

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
5
Likely pathogenic
0
VUS
1,285
Likely benign
2,073
Benign
3,560

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on PTCH1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
40%
Abnormality of the integument
40%
Abnormality of the musculoskeletal system
40%
Abnormality of limbs
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of the nervous system
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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