PTCH1 Chromosome 9
Patched 1
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What This Gene Does
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. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Solute carrier family 65
Locus Type
gene with protein product
Location
9q22.32
Ensembl
ENSG00000185920
Associated Conditions (50)
Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Charcot-Marie-Tooth disease
Holoprosencephaly 7
Basal cell carcinoma
susceptibility to
1
Basal cell nevus syndrome 1
Hereditary cancer
Medulloblastoma SHH activated
Holoprosencephaly sequence
See cases
Ovarian cancer
Autism spectrum disorder
Craniopharyngioma
Congenital heart disease
Irido-corneo-trabecular dysgenesis
Rieger anomaly
Turner syndrome
+30 more conditions
Key Variants
RS1003711941
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Health Risk
RS1019888019
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Health Risk
RS1025299062
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1030446889
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Health Risk
RS1035631674
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Health Risk
RS1036074195
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Health Risk
RS1040729718
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Health Risk
RS1043260017
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, PTCH1-related disorder
Health Risk
RS1051875027
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, Charcot-Marie-Tooth disease
Health Risk
RS1053507002
Conflicting classifications of pathogenicity
Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Health Risk
RS1057515721
Conflicting classifications of pathogenicity
Holoprosencephaly 7, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521043
Conflicting classifications of pathogenicity
Gorlin syndrome, Gorlin syndrome
Health Risk
All Variants (1118)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131690975 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690985 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1311804361 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Gorlin syndrome, Gorlin syndrome |
| RS1564051834 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Holoprosencephaly 7 |
| RS1588528503 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Gorlin syndrome |
| RS1588574709 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS1838315058 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS2117976305 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS2118429101 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS2538069785 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Basal cell nevus syndrome 1, Gorlin syndrome |
| RS2538216536 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS2538217642 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Basal cell nevus syndrome 1, Gorlin syndrome |
| RS2538234385 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Basal cell nevus syndrome 1, Gorlin syndrome |
| RS772407797 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS794727242 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS863225054 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Gorlin syndrome |
| RS878853849 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Hereditary cancer-predisposing syndrome, Basal cell nevus syndrome 1 |
| RS878853856 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome |