Table 3.
ASD candidate genes from WES/WGS studies.
| Chromosome | Gene symbol | Description | Mutations |
|---|---|---|---|
| 1 | POMGNT1 | Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase | p.R367H (64) |
| 1 | NTNG1 | Netrin G1 | p.T135I (58); p.Y23C (58) |
| 1 | POGZ | Pogo transposable element with ZNF domain | Frame shift (57); Frame shift (56) |
| 1 | USH2A | Usher syndrome 2A (autosomal recessive, mild) | p.W2075X, p.Y4238X, compound heterozygous (65) |
| 2 | DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | p.R635W (55) |
| 2 | ARID5A | AT rich interactive domain 5A (MRF1-like) | p.G120V (55) |
| 2 | IFIH1 | Interferon induced with helicase C domain 1 | Splicing site (65) |
| 2 | SCN2A | Sodium channel, voltage-gated, type II, alpha subunit | p.G1013X (61); p.C959X (61); deletion (60) |
| 2 | SCN1A | Sodium channel, voltage-gated, type I, alpha subunit | p.P1894L (1 mis-sense in additional cases) (58) |
| 3 | AMT | Aminomethyltransferase | p.I308F (64); p.D198G (64) |
| 5 | GPR98 | G protein-coupled receptor 98 | p.D6252N (3 point mutations in additional cases) (59) |
| 6 | PEX7 | Peroxisomal biogenesis factor 7 | p.W75C (64) |
| 6 | SYNE1 | Spectrin repeat containing, nuclear envelope 1 | p.L3206M (64) |
| 6 | VIP | Vasoactive intestinal peptide | p.Y73X (60) |
| 8 | VPS13B | Vacuolar protein sorting 13 homolog B (yeast) | Frame shift (64); p.S824A (64) |
| 8 | PKHD1L1 | Polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 | Splicing site (65) |
| 9 | LAMC3 | Laminin, gamma 3 | p.D339G (1 missense in additional cases) (58) |
| 10 | ANK3 | Ankyrin 3, node of Ranvier (ankyrin G) | p.G3690R (63) |
| 10 | USP54 | Ubiquitin specific peptidase 54 | Frame shift (60) |
| 11 | MICALCL | MICAL C-terminal like | Frame shift (60) |
| 11 | CAPRIN1 | Cell cycle associated protein 1 | p.Q399X (60) |
| 11 | KIRREL3 | Kin of IRRE like 3 (Drosophila) | Downstream (3 point mutations in additional cases) (59) |
| 12 | GRIN2B | Glutamate receptor, ionotropic, N-methyl D-aspar-tate 2B | Splicing site (1 nonsense and 1 frame shift in additional cases) (58) |
| 12 | NCKAP5L | NCK-associated protein 5-like | p.G11D (55) |
| 12 | PAH | Phenylalanine hydroxylase | Deletion (64); p.Q235X (64) |
| 12 | UBE3B | Ubiquitin protein ligase E3B | p.R40C (55) |
| 14 | CHD8 | Chromodomain helicase DNA binding protein 8 | 3 LOF mutations in additional cases (57); p.Q959X (58); Frame shift (58) |
| 14 | KIAA0284 | Centrosomal protein 170B | p.R1122H (55) |
| 16 | ABCC12 | ATP-binding cassette, sub-family C (CFTR/MRP), member 12 | p.W1024X (65) |
| 17 | ZNF18 | Zinc finger protein 18 | p.H377N (55) |
| 18 | KATNAL2 | Katanin p60 subunit A-like 2 | Splicing site (61); 3 LOF mutations in additional cases (57) |
| 20 | KCNQ2 | Potassium voltage-gated channel, KQT-like sub-family, member 2 | Frame shift (60) |
| 21 | DYRK1A | Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | Splicing site (58); Frame shift (56) |
| 22 | CLTCL1 | Clathrin, heavy chain-like 1 | p.R125C (55) |
| X | NLGN4X | Neuroligin 4, X-linked | p.Q329X (64) |
| X | KAL1 | Kallmann syndrome 1 sequence | p.R423X (60) |
| X | WWC3 | WWC family member 3] | p.R940Q (55) |
| X | ZC3H12B | Zinc finger CCCH-type containing 12B | p.R318Q (55) |
| X | DGAT2L6 | Diacylglycerol O-acyltransferase 2-like 6 | p.R151X (65); p.Q214X (65) |
| X | KIAA2022 | KIAA2022 | p.Q1471X (65) |
| X | PCDH11X | Protocadherin 11 X-linked | Splicing site (65) |
| X | SRPX2 | Sushi-repeat containing protein, X-linked 2 | Splicing site (65) |
| X | LUZP4 | Leucine zipper protein 4 | p.R161X (65); p.R163X (65) |
| X | BCORL1 | BCL6 corepressor-like 1 | p.R1090P (55) |
| X | AFF2 | AF4/FMR2 family, member 2 | p.A283X (65) |
| X | MECP2 | Methyl CpG binding protein 2 | p.E495X (65); p.E483X (64) |
| X | TMLHE | Trimethyllysine hydroxylase, epsilon | Splicing site (65) |
Shading represents recurrent in multiple studies.