Gaucher disease (GD) is caused by pathogenic variants in the glucosylceramidase beta 1 gene (GBA1, NM_000157.4) (1, 2), leading to deficient activity of the lysosomal enzyme acid β-glucocerebrosidase and an accumulation of glucosylceramide and other sphingolipids in the tissues and organs of the reticuloendothelial system (1, 3). This evidence concerns the gene GBA1 and Gaucher disease.