PTCH1
Developmental System · Morphogenesis & Embryonic Axis Patterning
How does PTCH1 help keep cell growth under control?
PTCH1 makes a receptor in the Hedgehog signaling pathway, which helps organize developing tissues. Certain pathogenic variants disrupt this regulation and are associated with nevoid basal cell carcinoma syndrome.
- Common Gene Name
- patched 1
- NCBI Gene ID
- 5727
- Chromosome
- 9
Clinical Evidence Status
Actionability report availableEstablished disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (8 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| nevoid basal cell carcinoma syndrome | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2018-06-04 |
| holoprosencephaly | ClinGen gene-disease validity | Limited | Autosomal dominant | View source 2025-07-09 |
| Gorlin syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2012-10 | |
| Nonsyndromic holoprosencephaly | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2012-10 | |
| Coloboma | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2012-10 | |
| 9q22.3 microdeletion | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2012-10 | |
| Basal Cell Nevus Syndrome (BCNS) | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2023-03-07 |
| Basal Cell Nevus Syndrome (BCNS) | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2023-03-07 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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