Table 4.
Functional category | De novo variants | Familial variants |
---|---|---|
Cytoskeletal regulator | CTTNBP2, ADNP, SYNGAP1 | CTTNBP2, ADNP, SYNGAP1 |
Adhesion molecule | CDH10, CDH11, PCDH10, PCDH19, FAT1, CTNNA3, NRXN1-3, NLGN1, NLGN2, NLGN3, CNTNAP2, CNTN4-6 | CDH2, CDH8, CDH9, CDH11, PCDH9, PCDH10, PCDH19, FAT1, CTNNA3, NRXN1, NRXN2, NRXN3, NLGN1, NLGN3, CNTNAP2, CNTN3, CNTN4, CNTN5-6 |
Surface receptor | GRIK4, NTRK3, GRIN2B | GRIK2, NTRK3, GRIN2B |
Signaling molecule | DYRK1A, CDKL5, PTEN | DYRK1A, CDKL5, PTEN |
Synaptic molecule | SHANK1-3, DLGAP2, STXBP5 | SHANK1, SHANK2-3, DLGAP2, STXBP5, PRICKLE1, CYFIP1 |
Syndromic molecule | FMR1, MECP2, UBE3A, TSC2 | FMR1, MECP2, UBE3A, TSC1,TSC2 |
This table shows whether autism-risk variants found in these genes are de novo mutations or familial variants. Most genes have de novo and familial variants, however, some of genes show a preferential inheritance pattern (underlined; label in bold if only one pattern is found).