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. Author manuscript; available in PMC: 2018 May 7.
Published in final edited form as: Crit Rev Clin Lab Sci. 2014 May 30;51(5):249–262. doi: 10.3109/10408363.2014.910747

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.