PTCH1
Chr 9ADpatched 1
Also known as: BCNS, BCNS1, NBCCS, PTC, PTC1, PTCH, SLC65B1
The protein functions as the receptor for hedgehog ligands (sonic, indian, and desert hedgehog) and regulates hedgehog signaling by inhibiting smoothened until ligand binding causes its trafficking away from the primary cilium. Mutations cause basal cell nevus syndrome 1 and holoprosencephaly 7, both inherited in an autosomal dominant pattern. Loss-of-function mutations disrupt normal hedgehog signaling, which is critical for embryonic development and tumor suppression.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PTCH1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR)
RECRUITINGDetection of Circulating Kidney DNA in Kidney Transplant Patients Facing an Episode of Graft Rejection
RECRUITINGStargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
RECRUITINGClinical and Genetic Studies of X-Linked Juvenile Retinoschisis
ACTIVE NOT RECRUITINGNatural History of Spinocerebellar Ataxia Type 7 (SCA7)
RECRUITINGTargeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial)
ACTIVE NOT RECRUITINGClinical and Molecular Studies in Families With Inherited Eye Disease
RECRUITINGExternal Resources
Links to major genomics databases and tools