TSC2 and tuberous sclerosis: The genetic etiology of TSC stems from heterozygous pathogenic variants in TSC1 (MIM: 605284) or TSC2 (MIM: 191092) that encode for the proteins, hamartin and tuberin, respectively (European Chromosome 16 Tuberous Sclerosis Consortium, 1993; van Slegtenhorst et al., 1997).