We noticed that our gene-by-gene PheWAS recapitulated known Mendelian effects of approximately half of Mendelian genes at the 16p11.2 and 22q11.2 CNVs, including the effect of TBX1 on the circulatory system, of TANGO2 on glucose and epilepsy, and of TBX6 on the musculoskeletal system at this threshold [28–30, 92–94]. The gene discussed is TBX1; the disease is epilepsy.