Gene: PTCH1

Alternate names for this Gene: BCNS|NBCCS|PTC|PTC1|PTCH

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.32

Description of this Gene: patched 1

Type of Gene: protein-coding

rs147067171 in PTCH1 gene and ANTERIOR SEGMENT DYSGENESIS 5 PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

rs111532669 in PTCH1 gene and Alanine aminotransferase measurement PMID 30589442 2019 Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

rs75614054 in PTCH1 gene and Anxiety PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs587776689 in PTCH1 gene and BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 PMID 8658145 1996 Human homolog of patched, a candidate gene for the basal cell nevus syndrome.

PMID 9620294 1998 Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

rs1060502268 in PTCH1 gene and Basal Cell Nevus Syndrome PMID 12655573 2003 Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.

PMID 16301862 2006 Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

PMID 16088933 2005 DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.

PMID 16419085 2006 PTCH mutations: distribution and analyses.

PMID 24814739 2014 Manifestations of Gorlin-Goltz syndrome.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 16508594 2006 [Clinical and genetic study in 22 patients with basal cell nevus syndrome].

PMID 9415689 1997 De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.

PMID 9620294 1998 Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

PMID 8658145 1996 Human homolog of patched, a candidate gene for the basal cell nevus syndrome.

PMID 17021131 2006 Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

PMID 11457640 2001 Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.

PMID 8681379 1996 Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.

PMID 15459969 2004 Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 11231326 2001 Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 21304560 2011 Clinical utility gene card for: Gorlin syndrome.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

rs28457693 in PTCH1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

rs10512248 in PTCH1 gene and Body Height PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs10512248 in PTCH1 gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs10512248 in PTCH1 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs1554708787 in PTCH1 gene and Dysmorphic features PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.

PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.

PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.

PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.

rs138911275 in PTCH1 gene and HOLOPROSENCEPHALY 7 PMID 17096318 2006 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

rs10512248 in PTCH1 gene and Height PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs28620532 in PTCH1 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs1554708787 in PTCH1 gene and Muscle hypotonia PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.

PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.

PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.

PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.

rs1060502273 in PTCH1 gene and Neoplastic Syndromes, Hereditary PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 24814739 2014 Manifestations of Gorlin-Goltz syndrome.

PMID 10200051 1998 Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online.

PMID 18502968 2008 PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

PMID 15712338 2005 Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

PMID 10890722 2000 PTCH gene mutations in odontogenic keratocysts.

PMID 19362041 2009 PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation?

PMID 9620294 1998 Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

PMID 20068110 2010 Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

PMID 21834049 2011 Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

rs1554708787 in PTCH1 gene and Overgrowth PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.

PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.

PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.

PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

rs10512249 in PTCH1 gene and Pulmonary function PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

rs10512249 in PTCH1 gene and Pulmonary function (finding) PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

rs147067171 in PTCH1 gene and Rieger syndrome PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

rs111532669 in PTCH1 gene and Serum Alanine Aminotransferase Measurement PMID 30589442 2019 Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

rs473902 in PTCH1 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs473902 in PTCH1 gene and Smoking Behaviors PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs113154802 in PTCH1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs80155616 in PTCH1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1355619 in PTCH1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.