The somatic aberrations, such as IDH and TP53 mutations, EGFR (epidermal growth factor receptor) gene amplification, TERT (Telomerase reverse transcriptase) promoter mutations, PTEN (Phosphatase and tensin homolog) mutations, and ATRX (Alpha thalassemia/mental retardation syndrome X-linked) mutations enabled improved diagnosis and can help determine the prognosis and identify the optimal therapy for specific subgroups. The gene discussed is TERT; the disease is alpha thalassemia-X-linked intellectual disability syndrome.