A mutation on Chromosome 11 affecting BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Peripheral neuropathy