GBA1 and Gaucher disease: Participants with GBA1 mutations had the following variants (an asterisk indicates a phenotype that is known to cause severe Gaucher disease): p.E326K wild type (3 patients), p.N370S wild type (1 patient), p.R463C* wild type (2 patients), p.T369M/p.W393X* (1 patient), and RecNcil (p.L444P, p.A456P, and p.V460V)* wild type (1 patient).