22q11 proximal deletion, also known as DiGeorge syndrome or velocardiofacial syndrome, involves more than 30 Mendelian genes; potential genes such as TBX1, COMT, UFD1L, GNB1L, TRXR2, MED15, and RANBP1 were researched to explore the phenotype/CNV correlation. The gene discussed is TXNRD2; the disease is 22q11.2 deletion syndrome.