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Table 5 Biological functions/pathways of genes with variants found in children with ASDs

From: Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

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, 5456]
Neural function ITPK1, CLMN, PRTG [5759]
Mitochondrial function PLA2G4B, c7orf10, PDK4, C14orf2 [6063]
Inflammatory response/Immune function DEFB124, BPI, RNF31, IRF9 [6467]