Gaucher disease Type 1 (GD1, OMIM 230800), a recessively inherited, pan-ethnic glycosphingolipid storage disorder is caused by deficient activity of lysosomal acid β-glucosidase (glucocerebrosidase, EC3.2.1.45, GCase) resulting from pathogenic variations in the GCase gene, GBA1 [1]. The gene discussed is GBA1; the disease is Gaucher disease type 1.