Firstly, in a family in which all members over two generations presented with splenomegaly owing to four distinct GBA genotypes, a plasma lyso-Gb1 level spanning more than one order of magnitude correlated well with the presumed pathogenicity of the genotypes and with hepatosplenomegaly, thrombocytopenia, and bone pain [123]. This evidence concerns the gene GBA1 and Hepatosplenomegaly.