The most intensively studied mTORopathy is tuberous sclerosis simplex (TSC), which is caused by inactivating mutations in one of the tumor suppressor genes TSC1 or TSC2. These genes encode hamartin and tuberin, respectively, which together with TBC1D7 form the TSC complex and play a pivotal role in suppression of mTORC1 (Qin et al., 2016; Muhlebner et al., 2019). The gene discussed is TSC2; the disease is tuberous sclerosis.