For 4 of these 10 genes, pathogenic variants have been established as the cause of neurodevelopmental disorders, including CTNNA2 (OMIM: 618174), TNPO2 (OMIM: 619556), ASH1L (OMIM: 617796), and SHANK1 (OMIM: 209850) (Supplemental Figure 17E). The gene discussed is CTNNA2; the disease is neurodevelopmental disorder.