Top PheWAS results for 22q11.2 genes included primary cardiac traits such as tachycardia (P2RX6P, GNB1L) and primary brain-related traits such as autism (TANGO2, ZDHHC8). We also found genes with top PheWAS results overlapping secondary traits from the carrier screen, such as diseases of the larynx and vocal cords (DGCR6, PRODH, ARVCF). Here, ARVCF is linked to autism.