There is however consensus that the genotype influences the phenotype for other tumorous disorders and malformations in GS [6, 8]. PTCH1 pathogenic variants are associated with jaw keratocyst and a higher rate of skeletal anomalies compared to pathogenic variants in the SUFU gene, where to-date keratocysts of the jaw have not been reported [8]. SUFU pathogenic variants are associated with a higher rate of meningiomas and medulloblastomas compared to PTCH1 [4, 9]. The gene discussed is PTCH1; the disease is medulloblastoma.