Gorlin syndrome (GS), or nevoid basal cell carcinoma syndrome, is caused by pathogenic variant in the PTCH1 tumor suppressor gene and characterized by basal cell carcinomas (BCCs), keratocystic odontogenic tumors of the jaw, medulloblastomas, and other cutaneous and skeletal features. The gene discussed is PTCH1; the disease is nevoid basal cell carcinoma syndrome.