Table 5.
Biological functions/pathways of genes with variants found in children with ASDs
| Function | Gene names | References |
|---|---|---|
| Previously associated with autism |
TRPM1, RAB11FIP5, AKAP9, SCN3A |
[27,43,49,53] |
| Previously associated with neurological disorder (other than autism) |
RELN (autosomal recessive lissencephaly), ALX1 (facial clefting, micropthalmia), CCDC85C (seizures), EPB41L1 (intellectual disability) |
[44,45,50,54-56] |
| Neural function |
ITPK1, CLMN, PRTG |
[57-59] |
| Mitochondrial function |
PLA2G4B, c7orf10, PDK4, C14orf2 |
[60-63] |
| Inflammatory response/Immune function | DEFB124, BPI, RNF31, IRF9 | [64-67] |