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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, 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]