Despite the revolution in the diagnosis of rare human genetic disorders afforded by next-generation sequencing techniques, the identification of new RTS genes remained stagnant for almost two decades, until the recent identification of three new genes associated with the disease: ANAPC1 (located on chromosome 2q13), CRIPT (located on chromosome 10q21.3) and DNA2 (located on chromosome 2p21). Here, ANAPC1 is linked to hereditary disease.