More recently, germline pathogenic variants in ASXL2 (reported in 2016) and ASXL3 (reported in 2013) were identified as the causes for Shashi-Pena syndrome (SHAPNS; MIM# 617190]) and Bainbridge-Ropers syndrome (BRS; MIM# 615485), respectively [6, 7]. The gene discussed is ASXL3; the disease is Shashi-Pena syndrome.