PTCH1 Chromosome 9

Patched 1
1118 variants 1118 Health Risk

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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
RS149547604 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS149691476 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Holoprosencephaly 7
RS149762881 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Basal cell carcinoma
RS150069331 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma, susceptibility to
RS150284288 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS150373546 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS150696398 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Holoprosencephaly 7
RS151310492 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome, Holoprosencephaly 7
RS1554688167 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1554689404 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1554690494 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554691694 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1554698288 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Basal cell carcinoma
RS1554699269 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1554700630 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1564004796 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1564005341 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1564008885 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Basal cell carcinoma
RS1564030723 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1564030910 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma, susceptibility to
RS1564054554 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1587701162 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome, Gorlin syndrome
RS1587701202 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Holoprosencephaly 7
RS1588510932 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1588528637 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1588535542 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1588540806 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1588574496 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1588578556 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1588598694 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Basal cell carcinoma
RS1588598721 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1588608882 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS181192122 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Holoprosencephaly 7
RS181585555 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Basal cell carcinoma
RS182045135 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7, Hereditary cancer-predisposing syndrome
RS1837949550 Health Risk Conflicting classifications of pathogenicity Basal cell carcinoma, susceptibility to, 1
RS1838031568 Health Risk Conflicting classifications of pathogenicity Turner syndrome, Gorlin syndrome, Turner syndrome
RS1840282022 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1841070214 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1841071047 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1841075494 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1841148776 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1841396845 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1841917213 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1843914121 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Basal cell carcinoma
RS185570125 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma, susceptibility to
RS186008764 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7, Hereditary cancer-predisposing syndrome
RS187104739 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Holoprosencephaly 7
RS187813269 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS192994934 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Gorlin syndrome, Holoprosencephaly 7
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