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. 2022 Mar 31;23(7):3861. doi: 10.3390/ijms23073861

Table 1.

Candidate genes implicated in ASD.

Gene Protein SFARI
Gene Score
Evidence References
SLC1A2 excitatory amino acid transporter 2 (EAAT2) Syndromic
(Score 3)
-Rare de novo deletion, Genetic Association [153]
GRIA2 Glutamate ionotropic receptor AMPA type subunit 2 High confidence
(Score 1)
-Heterozygous de novo variants;-19 megabase deletion in the chromosomal region containing the gene [119,120,125,126,154]
GRIN2B Glutamate Ionotropic Receptor NMDA Type Subunit 2B High confidence
(Score 1)
-Rare missense mutations;
-de novo splice-site variants
-de novo loss-of-function variants
[127,128,129,130,131,132,133,134]
GRIA1 Glutamate Ionotropic Receptor AMPA Type Subunit 1 Strong candidate
(Score 2)
-Missense variant (p.Ala636Thr) [121,135,136]
GRIN2A Glutamate Ionotropic Receptor NMDA Type Subunit 2A Strong candidate
(Score 2)
-Rare pathogenic deletions
-Heterozygous de novo missense variant
[123,137,138,139,140,141,142,143,144,145]
GRIK2 Glutamate ionotropic receptor kainate type subunit 2 Strong candidate
(Score 2)
-Rare Single Gene Mutation, Genetic Association [21,146]
GRIK5 Glutamate ionotropic receptor kainate type subunit 5 Strong candidate
(Score 2)
-Rare single gene mutations [147,148]
GRIP1 Glutamate Receptor-Interacting Protein 1 Strong candidate
(Score 2)
-Missense mutations [149]
GRID1 Glutamate Ionotropic Receptor Delta Type Subunit 1 Strong candidate
(Score 2)
-Rare Single Gene Mutation,
Genetic Association
[150,151]
GRM5 Glutamate metabotropic receptor 5 Suggestive evidence (Score 3) -De novo in-frame deletion variant, Genetic Association;
-Twelve rare variants
[155,156]
GRM7 Glutamate metabotropic receptor 7 Suggestive evidence (Score 3) gene variations and susceptibility to ASD;
Rare de novo deletion
[157,158]
GRM8 Glutamate metabotropic receptor 8 / -Variants in the chromosomal region 7q21–32
-Microdeletion in the chromosomal region 7q31.33q32.1
[20,152]