Table 1.
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] |