| CA6 |
carbonic anhydrase VI |
1 |
1p36.2 |
The protein encoded by this gene is one of several isozymes of carbonic anhydrase. |
Rare Single Gene variant |
6 |
| DAB1 |
Disabled homolog 1 (Drosophila) |
1 |
1p32-p31 |
DAB1 serves as an intracellular adaptor for reelin signaling pathway |
Functional |
6 |
| DISC1 |
Disrupted in schizophrenia 1 |
1 |
1q42.1 |
This gene encodes a protein with multiple coiled coil motifs and is involved in neurite outgrowth and cortical development through its interaction with other proteins. |
Syndromic |
24 |
| DLGAP3 |
Discs, large (Drosophila) homolog-associated protein 3 |
1 |
1p35.3-p34.1 |
May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane. |
Functional |
7 |
| DPYD |
Dihydropyrimidine dehydrogenase |
1 |
1p22 |
The encoded protein is a pyrimidine catabolic enzyme and participates in the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. |
Rare Single Gene variant |
6 |
| HSD11B1 |
Hydroxysteroid (11-beta) dehydrogenase 1 |
1 |
1q32-q41 |
The encoded protein is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. It can also catalyze the reverse reaction, the conversion of cortisone to cortisol. |
Syndromic |
8 |
| KCNJ10 |
Potassium inwardly-rectifying channel, subfamily J, member 10 |
1 |
1q23.2 |
Responsible for potassium buffering action of glial cells in the brain. Characterized by a greater tendency to allow potassium to flow into the cell rather than out. Voltage dependence on extracellular potassium. Blocked by extracellular barium and cesium. Defects in this gene are a cause of SESAME (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) syndrome (OMIM:612780], also known as EAST syndrome. |
Genetic Association |
7 |
| MARK1 |
MAP/microtubule affinity-regulating kinase 1 |
1 |
1q41 |
Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt signaling pathway. |
Genetic association/Functional |
7 |
| MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
1 |
1p36.3 |
The encoded protein catalyzes the conversion of 5,10 methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. |
Genetic Association |
11 |
| NOS1AP |
nitric oxide synthase 1 (neuronal) adaptor protein |
1 |
1q23.3 |
An adaptor protein serving as regulator of neuronal nitric oxide synthase |
Rare single Gene variant |
6 |
| NTNG1 |
netrin G1 |
1 |
1p13.3 |
Netrin G1 (NTNG1) belongs to a conserved family of proteins that act as axon gui dance cues during vertebrate nervous system development |
Syndromic |
8 |
| NTRK1 |
neurotrophic tyrosine kinase, receptor, type 1 |
1 |
1q21-q22 |
A membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. |
Rare Single Gene variant |
7 |
| PTGS2 |
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase) |
1 |
1q25.2-q25.3 |
The encoded protein is a key enzyme for prostaglandin synthesis. It has prostagl andin-endoperoxide synthase activity. |
Genetic Association |
5 |
| PTPRC |
protein tyrosine phosphatase, receptor type, C |
1 |
1q31-q32 |
The encoded protein is a member of the protein tyrosine phosphatase (PTP) family that is an essential regulator of T- and B-cell antigen receptor signaling |
Genetic Association |
8 |
| RFWD2 |
ring finger and WD repeat domain 2 |
1 |
1q25.1-q25.2 |
Ubiquitin-protein ligase |
Genetic Association |
8 |
| RGS7 |
regulator of G-protein signaling 7 |
1 |
1q23.1 |
Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(o)-alpha is specifically enhanced by the RGS6/GNG5 dimer. May play a role in synaptic vesicle exocytosis as well as an important role in the rapid regulation of neuronal excitability and the cellular responses to short-lived stimulations. |
Rare Single Gene variant |
6 |
| AGAP1 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 |
2 |
2q37 |
This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. |
Rare Single Gene variant, Genetic Association |
5 |
| ARHGAP15 |
Rho GTPase activating protein 15 |
2 |
2q22.2-q22.3 |
GTPase activator for the Rho-type GTPases by converting them to inactive GDP-bound state. |
Rare Single Gene variant |
5 |
| CNTNAP5 |
contactin associated protein-like 5 |
2 |
2q14.3 |
A multidomain transmembrane protein involved in cell adhesion and intercellular communication |
Genetic Association |
7 |
| DLX1 |
distal-less homeobox 1 |
2 |
2q32 |
The encoded protein is a homeobox transcription factor. |
Genetic Association |
8 |
| DLX2 |
distal-less homeobox 2 |
2 |
2q32 |
The encoded protein is a homeobox transcription factor. |
Genetic Association |
11 |
| DPP10 |
Dipeptidyl-peptidase 10 |
2 |
2q14.1 |
Binds specific voltage-gated potassium channels and alters their expression and biophysical properties |
Rare Single Gene variant |
9 |
| ERBB4 |
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) |
2 |
2q33.3-q34 |
A transmembrane receptor tyrosine kinase that regulates cell proliferation and differentiation |
Rare Single Gene variant |
11 |
| HDAC4 |
histone deacetylase 4 |
2 |
2q37.3 |
Regulation of transcription |
Genetic Association |
10 |
| IL1R2 |
interleukin 1 receptor, type II |
2 |
2q12 |
Receptor for interleukin-1 alpha, beta, and interleukin-1 receptor antagonist protein. |
Rare Single Gene variant |
5 |
| ITGA4 |
integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) |
2 |
2q31.3 |
Cell adhesion molecules |
Genetic Association |
5 |
| MAP2 |
microtubule-associated protein 2 |
2 |
2q34-q35 |
The encoded protein is a member of microtubule-associated protein family. |
Rare Single Gene variant |
5 |
| MBD5 |
Methyl-CpG binding domain protein 5 |
2 |
2q23.1 |
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. |
Rare Single Gene Mutation |
19 |
| MYT1L |
Myelin transcription factor 1-like |
2 |
2p25.3 |
May function as a panneural transcription factor associated with neuronal differentiation and may play a role in the development of neurons and oligodendroglia in the CNS. |
Multigenic CNV |
6 |
| NRP2 |
neuropilin 2 |
2 |
2q33.3 |
High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF |
Genetic Association |
6 |
| NRXN1 |
neurexin 1 |
2 |
2p16.3 |
Neurexins function in the vertebrate nervous system as cell adhesion molecules and receptors. Two neurexin genes are among the largest known in human (NRXN1 and NRXN3). By using alternate promoters, splice sites and exons, predictions of hundreds or even thousands of distinct mRNAs have been made. |
Rare Single Gene variant |
51 |
| RAPGEF4 |
Rap guanine nucleotide exchange factor (GEF) 4 |
2 |
2q31-q32 |
The encoded protein acts as a cAMP sensor and mediates cAMP-dependent, protein k inase A-independent exocytosis. |
Rare Single Gene variant, Genetic Association |
11 |
| SATB2 |
SATB homeobox 2 |
2 |
2q33 |
This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. |
Syndromic |
5 |
| SCN1A |
sodium channel, voltage-gated, type I, alpha subunit |
2 |
2q24.3 |
This gene encodes the large alpha subunit of the vertebrate voltage-gated sodium channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. |
Rare Single Gene variant |
19 |
| SCN2A |
sodium channel, voltage-gated, type II, alpha subunit |
2 |
2q23-q24 |
voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. |
Rare Single Gene variant |
17 |
| SLC25A12 |
solute carrier family 25 (mitochondrial carrier, Aralar), member 12 |
2 |
2q24 |
The encoded protein has solute:cation symporter activity. |
Genetic Association |
14 |
| SLC4A10 |
solute carrier family 4, sodium bicarbonate transporter-like, member 10 |
2 |
2q23-q24 |
inorganic anion exchanger activity |
Genetic Association |
5 |
| SNTG2 |
Syntrophin, gamma 2 |
2 |
2p25.3 |
Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. SNTG2 has been shown to interact with neuroligins 3 and 4X, and these interactions were influenced by autism-related mutations, implying that the impaired interaction between NLs and SNTG2 contributes to the etiology of autism (Yamakawa et al., 2007). |
Rare single gene variant |
5 |
| STK39 |
serine threonine kinase 39 (STE20/SPS1 homolog, yeast) |
2 |
2q24.3 |
This gene encodes a serine/threonine kinase implicated in the cellular stress re sponse pathway |
Genetic Association |
5 |
| TBR1 |
T-box, brain, 1 |
2 |
2q24 |
Probable transcriptional regulator involved in developmental processes that is required for normal brain development. |
Rare Single Gene variant |
5 |
| TTN |
titin |
2 |
2q31 |
Key component in the assembly and functioning of vertebrate striated muscles. Contributes to fine balance of forces between two halves of the sarcomere. |
Rare Single Gene variant |
9 |
| CACNA1D |
calcium channel, voltage-dependent, L type, alpha 1D |
3 |
3p14.3 |
The encoded protein has low voltage-gated calcium channel activity. |
Functional |
6 |
| CNTN4 |
contactin 4 |
3 |
3p26-p25 |
This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. |
Syndromic |
14 |
| CTNNB1 |
Catenin (cadherin-associated protein), beta 1, 88kDa |
3 |
3p21 |
Key downstream component of the canonical Wnt signaling pathway. The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. |
Rare Single Gene variant |
5 |
| DRD3 |
dopamine receptor D3 |
3 |
3q13.3 |
This gene encodes the D3 subtype of dopamine receptor |
Genetic Association |
7 |
| EPHA6 |
EPH receptor A6 |
3 |
3q11.2 |
The encoded protein is a member of Eph family of receptor tyrosine kinases that are involved in establishing neuronal projections. |
Rare Single Gene variant |
6 |
| FEZF2 |
FEZ family zinc finger 2 |
3 |
3p14.2 |
Regulation of transcription |
Genetic Association |
7 |
| FHIT |
fragile histidine triad gene |
3 |
3p14.2 |
Encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. |
Genetic Association |
8 |
| FOXP1 |
forkhead box P1 |
3 |
3p14.1 |
Transcriptional repressor. Plays an important role in the specification and differentiation of lung epithelium. |
Rare Single Gene variant |
11 |
| GPX1 |
glutathione peroxidase 1 |
3 |
3p21.3 |
It functions in the detoxification of hydrogen peroxide |
Genetic Association |
5 |
| HTR3C |
5-hydroxytryptamine (serotonin) receptor 3, family member C |
3 |
3q27.1 |
Ligand-gated ion channel receptor |
Genetic Association |
5 |
| MBD4 |
methyl-CpG binding domain protein 4 |
3 |
3q21-q22 |
The encoded protein forms a complex with MLH1, binds to methyl-CpG-containing DNA, has homology to bacterial DNA repair glycosylases/lyases, and displays endonuclease activity. |
Rare Single Gene variant, Genetic Association |
5 |
| NLGN1 |
neuroligin 1 |
3 |
3q26.31 |
This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. |
Genetic Association |
13 |
| OXTR |
oxytocin receptor |
3 |
3p25 |
The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. |
Genetic Association |
26 |
| PLCD1 |
phospholipase C, delta 1 |
3 |
3p22-p21.3 |
Mediates production of second messenger molecules DAG and IP3. Essential for trophoblast and placental development |
Rare Single Gene variant |
8 |
| ROBO1 |
roundabout, axon guidance receptor, homolog 1 (Drosophila) |
3 |
3p12 |
The encoded protein is an axon guidance receptor and a cell adhesion receptor. |
Functional |
7 |
| SETD5 |
SET domain containing 5 |
3 |
3p25.3 |
This gene is predicted to encode a methyltransferase and resides within the critical interval for the 3p25 microdeletion syndrome. |
Rare Single Gene variant |
6 |
| SLC9A9 |
solute carrier family 9 (sodium/hydrogen exchanger), member 9 |
3 |
3q24 |
enzyme involved in pH regulation |
Rare Single Gene variant |
8 |
| TBC1D5 |
TBC1 domain family, member 5 |
3 |
3p24.3 |
The encoded protein may act as a GTPase-activating protein for Rab family protein(s). |
Rare Single Gene variant |
6 |
| XPC |
xeroderma pigmentosum, complementation group C |
3 |
3p25 |
This gene encodes a component of the nucleotide excision repair (NER) pathway. It acts as a damage-sensing and DNA-binding factor component of the XPC complex. |
Rare Single Gene variant |
8 |
| CD38 |
CD38 molecule |
4 |
4p15 |
CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues especially in leukocytes. CD38 also functions in cell adhesion, signal transduction and calcium signaling. CD38 synthesizes cyclic ADP-ribose, a second messenger for glucose-induced insulin secretion. CD38 also has cADPr hydrolase activity and moonlights as a receptor in cells of the immune system. |
Genetic Association |
5 |
| EIF4E |
eukaryotic translation initiation factor 4E |
4 |
4q21-q25 |
Translation initiation factor involved in directing ribosomes to the cap structure of mRNAs |
Rare single gene variant |
11 |
| GABRA4 |
gamma-aminobutyric acid (GABA) A receptor, alpha 4 |
4 |
4p12 |
The encoded protein is a subunit of GABA-A receptor. Neurotransmission is predominantly mediated by a gated chloride channel activity intrinsic to the receptor. |
Genetic Association |
6 |
| GRID2 |
glutamate receptor, ionotropic, delta 2 |
4 |
4q22 |
Human glutamate receptor delta-2 (GRID2) is a relatively new member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. GRID2 is a predicted 1,007 amino acid protein that shares 97% identity with the mouse homolog which is expressed selectively in cerebellar Purkinje cells. GRID2 is strongly suggested to have a role in neuronal apoptotic death. |
Rare Single Gene variant |
6 |
| PCDH10 |
protocadherin 10 |
4 |
4q28.3 |
encodes a cadherin-related neuronal receptor thought to play a role in the estab lishment and function of specific cell-cell connections in the brain. |
Rare Single Gene variant |
5 |
| ADRB2 |
adrenergic, beta-2-, receptor, surface |
5 |
5q31-q32 |
This gene encodes beta-2-adrenergic receptor which is a member of the G protein- coupled receptor superfamily. |
Genetic Association |
10 |
| AFF4 |
AF4/FMR2 family, member 4 |
5 |
5q31 |
May play a role in transcriptional regulation |
Rare Single Gene variant |
6 |
| APC |
adenomatosis polyposis coli |
5 |
5q21-q22 |
The encoded protein is a tumor suppressor. |
Genetic Association |
7 |
| CDH10 |
cadherin 10, type 2 (T2-cadherin) |
5 |
5p14-p13 |
cell adhesion |
Genetic Association |
7 |
| CDH9 |
cadherin 9, type 2 (T1-cadherin) |
5 |
5p14 |
cell adhesion |
Genetic Association |
6 |
| MEF2C |
myocyte enhancer factor 2C |
5 |
5q14 |
The encoded protein is a transcription factor involved in diverse developmental processes including hematopoiesis, cardiogenesis and neurogenesis. |
Rare Single Gene variant |
13 |
| MSNP1AS |
Moesin??pseudogene 1, antisense |
5 |
5p14.1 |
A noncoding RNA encoded by the opposite (antisense) strand of??moesin??pseudogene 1 (MSNP1). Chromosome 5p14.1 MSNP1AS is 94% identical and antisense to the X chromosome transcript of MSN, which encodes a protein (moesin) that regulates neuronal architecture. |
Genetic Association |
7 |
| PITX1 |
paired-like homeodomain 1 |
5 |
5q31 |
Transcription factor |
Genetic Association |
5 |
| SEMA5A |
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A |
5 |
5p15.2 |
The encoded protein is a member of the semaphorin family of membrane proteins that play roles in axonal guidance during neural development. |
Functional |
10 |
| AHI1 |
Abelson helper integration site 1 |
6 |
6q23.3 |
This gene is apparently required for both cerebellar and cortical development in humans. Mutations in this gene cause specific forms of Joubert syndrome-related disorders. It encodes a modular protein that contains one SH3 motif and seven WD40 repeats |
Rare Single Gene variant |
15 |
| ALDH5A1 |
aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) |
6 |
6p22.2-p22.3 |
The encoded protein is a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. |
Syndromic |
5 |
| ARID1B |
AT rich interactive domain 1B (SWI1-like) |
6 |
6q25.1 |
A component of the SWI/SNF chromatin remodeling complex involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. Mutations in the ARID1B gene are responsible for mental retardation, autosomal dominant 12 (MRD12; OMIM #614562) and some forms of Coffin-Siris syndrome (CSS; OMIM #135900). |
Rare single gene variant |
10 |
| C4B |
complement component 4B |
6 |
6p21.3 |
The encoded protein is part of the classical pathway of the complement system. |
Genetic Association |
5 |
| CNR1 |
cannabinoid receptor 1 (brain) |
6 |
6q14-q15 |
The encoded protein has cannabinoid receptor activity. |
Genetic Association |
6 |
| ESR1 |
estrogen receptor 1 |
6 |
6q25.1 |
Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues. |
Syndromic |
8 |
| F13A1 |
coagulation factor XIII, A1 polypeptide |
6 |
6p25.3-p24.3 |
The encoded protein has protein-glutamine gamma-glutamyltransferase activity. I t participates in blood coagulation cascade. |
Functional |
5 |
| FABP7 |
fatty acid binding protein 7, brain |
6 |
6q22-q23 |
The encoded protein binds long-chain fatty acids and other hydrophobic ligands |
Genetic Association |
6 |
| GLO1 |
glyoxalase I |
6 |
6p21.3-p21.1 |
The encoded protein mediates catalysis and formation of S-lactoyl-glutathione from methylglyoxal and reduced glutathione. |
Genetic Association |
8 |
| GRIK2 |
glutamate receptor, ionotropic, kainate 2 |
6 |
6q16.3-q21 |
This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. |
Genetic Association |
10 |
| HLA-A |
major histocompatibility complex, class I, A |
6 |
6p21.3 |
The encoded protein belongs to the MHC class I receptor and plays a central role in the immune response. |
Genetic Association |
6 |
| HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
6 |
6p21.3 |
The encoded protein belongs to the MHC class II receptor and plays a central role in the immune response. |
Genetic Association |
5 |
| HS3ST5 |
heparan sulfate (glucosamine) 3-O-sulfotransferase 5 |
6 |
6q21 |
sulfotransferases |
Genetic Association |
5 |
| HTR1B |
5-hydroxytryptamine (serotonin) receptor 1B |
6 |
6q13 |
The encoded protein belongs to G-protein coupled receptor 1 family. |
Genetic Association |
6 |
| JARID2 |
Jumonji, AT rich interactive domain 2 |
6 |
6p24-p23 |
This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. During embryogenesis, JARID2 is predominantly expressed in neurons and particularly in dorsal root ganglion cells. Association studies have identified JARID2 as a possible susceptibility gene in schizophrenia (Pedrosa et al., 2007; Liu et al., 2009). |
Genetic Association |
5 |
| PARK2 |
Parkinson disease (autosomal recessive, juvenile) 2, parkin |
6 |
6q25.2-q27 |
Ubiquitin-protein ligase |
Genetic Association |
12 |
| SYNE1 |
spectrin repeat containing, nuclear envelope 1 |
6 |
6q25 |
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. |
Rare Single Gene variant |
10 |
| SYNGAP1 |
synaptic Ras GTPase activating protein 1 |
6 |
6p21.3 |
A major component of the postsynaptic density (PSD)associated with NMDA receptors |
Rare Single Gene variant |
21 |
| VIP |
Vasoactive intestinal peptide |
6 |
6q25 |
The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. |
Functional |
5 |
| AUTS2 |
autism susceptibility candidate 2 |
7 |
7q11.22 |
unknown |
Rare Single Gene variant |
22 |
| BRAF |
v-raf murine sarcoma viral oncogene homolog B |
7 |
7q34 |
This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome (CFC) [MIM:115150], a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. |
Syndromic |
5 |
| CADPS2 |
Ca2+-dependent activator protein for secretion 2 |
7 |
7q31.3 |
The encoded protein has calcium-binding activity and mediates vesicle exocytosis. |
Rare Single Gene variant |
9 |
| CNTNAP2 |
contactin associated protein-like 2 |
7 |
7q35-q36 |
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. |
Syndromic |
39 |
| DLX6 |
distal-less homeobox 6 |
7 |
7q22 |
Transcription factor |
Rare Single Gene variant |
8 |
| DOCK4 |
Dedicator of cytokinesis 4 |
7 |
7q31.1 |
Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP. |
Genetic association/multigenic CNV |
5 |
| DPP6 |
dipeptidyl-peptidase 6 |
7 |
7q36.2 |
This protein modulates the kinetics of transient A-type currents. |
Genetic Association |
19 |
| EN2 |
engrailed homolog 2 |
7 |
7q36 |
The encoded protein is a transcription factor. |
Genetic Association |
16 |
| FOXP2 |
forkhead box P2 |
7 |
7q31 |
This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. |
Rare single gene variant |
26 |
| GRM8 |
glutamate receptor, metabotropic 8 |
7 |
7q31.3-q32. |
The encoded protein has glutamate, GABA-B-like receptor activity. |
Genetic Association |
6 |
| GTF2I |
general transcription factor IIi |
7 |
7q11.23 |
A multifunctional phosphoprotein with roles in transcription and signal transduction. |
Rare Single Gene variant |
5 |
| HOXA1 |
homeobox A1 |
7 |
7p15.3 |
The encoded protein is a transcription factor that plays a major role in brainstem and cranial morphogenesis. |
Genetic Association |
15 |
| IMMP2L |
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) |
7 |
7q31 |
The encoded protein has serine-like peptidase activity. |
Syndromic |
9 |
| MET |
met proto-oncogene (hepatocyte growth factor receptor) |
7 |
7q31 |
The encoded protein is the hepatocyte growth factor receptor with tyrosine-kinase activity. The primary single chain precursor protein is post-translationally cleaved to produce the alpha and beta subunits, which are disulfide linked to form the mature receptor. |
Genetic Association |
29 |
| NRCAM |
neuronal cell adhesion molecule |
7 |
7q31.1-q31.2 |
The encoded protein is a cell-cell adhesion molecule that participates in neuro nal outgrowth and guidance processes. |
Genetic Association |
5 |
| PON1 |
paraoxonase 1 |
7 |
7q21.3 |
The encoded protein hydrolyzes a broad spectrum of organophosphate substrates and a number of aromatic carboxylic acid esters. |
Genetic Association |
5 |
| RELN |
Reelin |
7 |
7q22 |
This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. |
Genetic Association |
27 |
| SND1 |
staphylococcal nuclease and tudor domain containing 1 |
7 |
7q31.3 |
A component of the RNA-induced silencing complex (RISC) |
Genetic Association |
8 |
| WNT2 |
wingless-type MMTV integration site family member 2 |
7 |
7q31 |
The encoded protein is a constituent of the extracellular matrix and plays a rol e in signal transduction. |
Genetic Association |
9 |
| CHD7 |
chromodomain helicase DNA binding protein 7 |
8 |
8q12.2 |
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. |
Syndromic |
7 |
| DLGAP2 |
discs, large (Drosophila) homolog-associated protein 2 |
8 |
8p23 |
The encoded protein is a membrane-associated guanylate kinase localized at the post-synaptic density in neuronal cells. |
Rare Single Gene variant |
7 |
| FABP5 |
fatty acid binding protein 5 (psoriasis-associated) |
8 |
8q21.13 |
The encoded protein binds long-chain fatty acids and other hydrophobic ligands |
Rare Single Gene variant, Genetic Association |
5 |
| KCNQ3 |
Potassium voltage-gated channel, KQT-like subfamily, member 3 |
8 |
8q24 |
Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Defects in KCNQ3 are the cause of benign familial neonatal seizures type 2 (BFNS2) [MIM:121201]. |
Genetic Association |
5 |
| MCPH1 |
microcephalin 1 |
8 |
8p23.1 |
This protein is implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex. |
Rare Single Gene variant |
11 |
| PINX1 |
PIN2/TERF1 interacting, telomerase inhibitor 1 |
8 |
8p23 |
The encoded protein is inhibitor of telomerase activity |
Rare Single Gene variant |
5 |
| VPS13B |
vacuolar protein sorting 13 homolog B (yeast) |
8 |
8q22.2 |
This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. |
Syndromic |
7 |
| ASTN2 |
astrotactin 2 |
9 |
9q33.1 |
This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. |
Rare Single Gene variant |
9 |
| CACNA1B |
Calcium channel, voltage-dependent, N type, alpha 1B subunit |
9 |
9q34 |
The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. Variants in CACNA1B have been previously associated with schizophrenia and bipolar disorder (Moskvina et al., 2009; Glessner et al., 2010). |
Genetic Association |
5 |
| KCNT1 |
Potassium channel, subfamily T, member 1 |
9 |
9q34.3 |
Outwardly rectifying potassium channel subunit that may co-assemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro). Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity. |
Rare single gene variant |
5 |
| LAMC3 |
laminin, gamma 3 |
9 |
9q31-q34 |
Mediates the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. |
Rare Single Gene variant |
5 |
| SLC1A1 |
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 |
9 |
9p24 |
This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. This transporter also transports aspartate. |
Genetic Association |
11 |
| STXBP1 |
Syntaxin binding protein 1 |
9 |
9q34.1 |
This gene encodes a syntaxin-binding protein that appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Defects in STXBP1 are the cause of epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]. Affected individuals have neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination. |
Syndromic |
11 |
| TSC1 |
tuberous sclerosis 1 |
9 |
9q34 |
This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin and has been implicated as a tumor supressor. |
Rare Single Gene variant |
15 |
| ANK3 |
Ankyrin 3, node of Ranvier (ankyrin G) |
10 |
10q21 |
Membrane-cytoskeleton linker that may participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Genetic variants in ANK3 have been shown to strongly associate with schizophrenia and bipolar disorder. |
Genetic Association |
11 |
| CTNNA3 |
catenin (cadherin-associated protein), alpha 3 |
10 |
10q22.2 |
cell adhesion |
Genetic Association |
10 |
| HTR7 |
5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) |
10 |
10q21-q24 |
The encoded protein is a serotonin receptor. |
Genetic Association |
5 |
| KCNMA1 |
potassium large conductance calcium-activated channel, subfamily M, alpha member 1 |
10 |
10q22.3 |
The encoded protein is the pore forming alpha subunit of large conductance, voltage and calcium-sensitive potassium channels. These channels are fundamental to the control of smooth muscle tone and neuronal excitability. |
Rare single gene variant |
14 |
| PTEN |
phosphatase and tensin homolog (mutated in multiple advanced cancers 1) |
10 |
10q23.3 |
The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. |
Syndromic |
21 |
| CADM1 |
cell adhesion molecule 1 |
11 |
11q23.2 |
The gene encodes a brain-specific, immunoglobulin domain-containing protein. It binds to intracellular PDZ-domain proteins and functions as a homophilic cell adhesion molecule at the synapse. |
Rare Single Gene variant |
7 |
| CNTN5 |
Contactin 5 |
11 |
11q21-q22.2 |
Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system |
Rare single gene variant |
5 |
| DHCR7 |
7-dehydrocholesterol reductase |
11 |
11q13.2-q13.5 |
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. |
Syndromic |
7 |
| HEPACAM |
hepatic and glial cell adhesion molecule |
11 |
11q24.2 |
Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation |
Rare Single Gene variant |
5 |
| HRAS |
v-Ha-ras Harvey rat sarcoma viral oncogene homolog |
11 |
11p15.5 |
The encoded protein binds GTP and has GTPase activity. |
Rare Single Gene variant |
9 |
| HTR3A |
5-hydroxytryptamine (serotonin) receptor 3A |
11 |
11q23.1 |
ligand-gated ion channel receptor |
Functional |
7 |
| SHANK2 |
SH3 and multiple ankyrin repeat domains 2 |
11 |
11q13.3-q13.4 |
Shank proteins contain multiple domains for protein-protein interactions and function as molecular scaffolds in the postsynaptic density (PSD). |
Rare Single Gene variant |
15 |
| TH |
tyrosine hydroxylase |
11 |
11p15.5 |
The encoded protein has tyrosine 3-monooxygenase activity. |
Genetic Association |
6 |
| AVPR1A |
arginine vasopressin receptor 1A |
12 |
12q14-q15 |
The encoded protein is a receptor for arginine vasopressin. It belongs to the G -protein coupled receptor family. |
Rare Single Gene variant, Genetic Association |
12 |
| CACNA1C |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
12 |
12p13.3 |
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. |
Syndromic |
28 |
| GRIN2B |
glutamate receptor, inotropic, N-methyl D-apartate 2B |
12 |
12p12 |
NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. |
Genetic Association |
18 |
| GRIP1 |
glutamate receptor interacting protein 1 |
12 |
12q14.3 |
The encoded scaffold protein mediates trafficking and membrane organization of various transmembrane proteins. |
Rare Single Gene variant, Genetic Association |
9 |
| MYO1A |
myosin IA |
12 |
12q13-q14 |
Involved in directing the movement of organelles along actin filaments (muscle cells) |
Rare Single Gene variant |
6 |
| SCN8A |
sodium channel, voltage gated, type VIII, alpha subunit |
12 |
12q13 |
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants. |
Rare single gene variant |
5 |
| TPH2 |
tryptophan hydroxylase 2 |
12 |
12q21.1 |
The encoded protein has tryptophan 5-monooxygenase activity. |
Genetic Association |
11 |
| DIAPH3 |
Diaphanous-related formin 3 |
13 |
13q21.2 |
Actin-nucleating protein involved in the process of neurite outgrowth. |
Rare Single Gene variant |
9 |
| GPC6 |
glypican 6 |
13 |
13q32 |
A member of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycan family with a putative function of cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. |
Rare Single Gene variant |
7 |
| HTR2A |
5-hydroxytryptamine (serotonin) receptor 2A |
13 |
13q14-q21 |
The encoded protein is a serotonin receptor. |
Genetic Association |
7 |
| MYO16 |
myosin XVI |
13 |
13q33.3 |
motor protein, actin binding |
Genetic Association |
5 |
| PCDH9 |
protocadherin 9 |
13 |
13q21.32 |
encodes a cadherin-related neuronal receptor that localizes to synaptic junction s |
Rare Single Gene variant |
6 |
| CHD8 |
chromodomain helicase DNA binding protein 8 |
14 |
14q11.2 |
This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. |
Rare Single Gene variant |
5 |
| ESR2 |
estrogen receptor 2 (ER beta) |
14 |
14q23.2 |
This gene encodes a member of the family of estrogen receptors |
Syndromic |
7 |
| ESRRB |
estrogen-related receptor beta |
14 |
12 41.0 cM |
steroid hormone receptor, transcription factor |
Genetic Association |
7 |
| FOXG1 |
Forkhead box G1 |
14 |
14q13 |
Transcription factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon. |
Syndromic |
8 |
| GPHN |
Gephyrin |
14 |
14q23.3 |
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. Defects in GPHN are the cause of molybdenum cofactor deficiency type C (MOCOD type C) [MIM:252150], an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death. Mutations in this gene may also be associated with the neurological condition hyperplexia. |
Rare single gene variant |
5 |
| MDGA2 |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
14 |
14q21.3 |
The encoded protein is a member of the immunoglobulin domain cell adhesion molecule subfamily and and is proposed to be involved in regulating neuronal migration and axonal guidance |
Genetic Association |
5 |
| NRXN3 |
neurexin 3 |
14 |
14q31 |
Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. NRXN3 is one of the largest known human genes. It utilizes two alternate promoters and includes numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. |
Rare Single Gene variant |
8 |
| APBA2 |
amyloid beta (A4) precursor protein-binding, family A, member 2 |
15 |
15q11-q12 |
A neuronal adapter protein essential for synaptic transmission. |
Rare Single Gene variant |
5 |
| ARNT2 |
aryl-hydrocarbon receptor nuclear translocator 2 |
15 |
15q24 |
A member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors |
Syndromic |
9 |
| CHD2 |
Chromodomain helicase DNA binding protein 2 |
15 |
15q26 |
This gene enocdes a member of the CHD family of proteins, which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. |
Multigenic CNV |
8 |
| CHRNA7 |
cholinergic receptor, nicotinic, alpha 7 |
15 |
15q14 |
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. |
Rare single gene variant |
9 |
| CYFIP1 |
cytoplasmic FMR1 interacting protein 1 |
15 |
15q11 |
Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA. Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis. May act as an invasion suppressor in cancers. |
Multigenic CNV |
6 |
| GABRB3 |
gamma-aminobutyric acid (GABA) A receptor, beta 3 |
15 |
15q11.2-q12 |
The encoded protein is a subunit of GABA-A receptor. Neurotransmission is predominantly mediated by a gated chloride channel activity intrinsic to the receptor. |
Genetic Association |
20 |
| NTRK3 |
neurotrophic tyrosine kinase, receptor, type 3 |
15 |
15q25 |
A membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway |
Rare Single Gene variant, Genetic Association |
12 |
| RORA |
RAR-related orphan receptor A |
15 |
15q22.2 |
A member of the nuclear hormone-receptor superfamily |
Functional |
14 |
| ST8SIA2 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 |
15 |
15q26 |
The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). Variants in the ST8SIA2 gene have been found to associate with schizophrenia and bipolar disorder (Arai et al., 2006; Tao et al., 2007; McAuley et al., 2012). |
Genetic association |
5 |
| UBE3A |
ubiquitin protein ligase E3A |
15 |
15q11.2 |
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. |
Genetic Association |
13 |
| ANKRD11 |
ankyrin repeat domain 11 |
16 |
16q24.3 |
Transcription factor that may recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. Defects in ANKRD11 are the cause of KBG syndrome (KBGS) [MIM:148050], a syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability. |
Rare Single Gene variant |
9 |
| CACNA1H |
calcium channel, voltage-dependent, alpha 1H subunit |
16 |
16p13.3 |
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. |
Rare Single Gene variant |
14 |
| CDH8 |
cadherin 8, type 2 |
16 |
16q22.1 |
An integral membrane proteins that mediates calcium-dependent cell-cell adhesion |
Rare Single Gene variant |
6 |
| CNTNAP4 |
Contactin associated protein-like 4 |
16 |
16q23.1 |
This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. |
Rare Single Gene variant |
5 |
| CREBBP |
CREB binding protein |
16 |
16p13.3 |
This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. |
Syndromic |
5 |
| CTCF |
CCCTC-binding factor (zinc finger protein) |
16 |
16q21-q22.3 |
This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor.?? |
Functional |
5 |
| GPR139 |
G protein-coupled receptor 139 |
16 |
16p12.3 |
G-protein coupled receptor; transducer |
Rare Single Gene variant |
5 |
| GRIN2A |
glutamate receptor, ionotropic, N-methyl D-aspartate 2A |
16 |
16p13.2 |
The encoded protein is a subunit of N-methyl-D-aspartate (NMDA) selective glutamate receptors. |
Genetic Association |
17 |
| MKL2 |
MKL/myocardin-like 2 |
16 |
16p13.12 |
A strong transcriptional co-activator of promoters containing serum response elements (SRE) |
Genetic Association |
8 |
| RBFOX1 |
RNA binding protein, fox-1 homolog (C. elegans) 1 |
16 |
16p13.3 |
RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis. |
Genetic Association |
23 |
| SEZ6L2 |
SEZ6L2 seizure related 6 homolog (mouse)-like 2 |
16 |
16p11.2 |
transmembrane receptor, may contribute to specialized endoplasmic reticulum functions in neurons |
Rare Single Gene variant |
5 |
| TSC2 |
tuberous sclerosis 2 |
16 |
16p13.3 |
The product of this gene is believed to be a tumor suppressor and is able to stimulate specific GTPases. |
Genetic Association |
15 |
| BAIAP2 |
BAI1-associated protein 2 |
17 |
17q25 |
An adaptor protein of post-synaptic density that links membrane bound G-proteins to cytoplasmic effector proteins |
Genetic Association |
10 |
| CACNA1G |
calcium channel, voltage-dependent, T type, alpha 1G subunit |
17 |
17q22 |
Voltage-activated calcium channels |
Genetic Association |
11 |
| HOXB1 |
homeobox B1 |
17 |
17q21.3 |
The encoded protein is a transcription factor. |
Genetic Association |
8 |
| ITGB3 |
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) |
17 |
17q21.32 |
The encoded protein is the integrin beta chain beta 3 that participates in cell adhesions and cell-surface mediated signalling. |
Genetic Association |
11 |
| NF1 |
neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
17 |
17q11.2 |
The encoded protein has Ras GTPase activity and appears to be a negative regulator of cell proliferation. |
Rare Single Gene variant, Genetic Association |
16 |
| NOS2A |
nitric oxide synthase 2A (inducible, hepatocytes) |
17 |
17q11.2-q12 |
This gene encodes a nitric oxide synthase which is inducible by a combination o f lipopolysaccharide and certain cytokines. |
Genetic Association |
6 |
| PER1 |
period homolog 1 (Drosophila) |
17 |
17p13.1-p12 |
This gene is a member of the Period family of genes and is expressed in a circad ian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in t he mammalian brain. |
Genetic Association |
5 |
| RAI1 |
retinoic acid induced 1 |
17 |
17p11.2 |
Mutations in RAI1 cause Smith-Magenis Syndrome. |
Rare Single Gene variant |
8 |
| SLC6A4 |
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
17 |
17q11.1-q12 |
The encoded protein has serotonin transporter activity, serotonin:sodium symport er activity. |
Genetic Association |
19 |
| BCL2 |
B-cell CLL/lymphoma 2 |
18 |
18q21.3 |
An integral outer mitochondrial membrane protein that blocks the apoptotic cell death |
Functional |
10 |
| CELF4 |
CUGBP, Elav-like family member 4 |
18 |
18q12 |
RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. When expressed ubiquitously, CELF4 is strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes. |
Functional |
5 |
| MBD1 |
methyl-CpG binding domain protein 1 |
18 |
18q21 |
The encoded protein binds specifically to methylated DNA and can repress transcription |
Rare Single Gene variant |
5 |
| TCF4 |
Transcription factor 4 |
18 |
18q21.1 |
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif and is involved in the initiation of neuronal differentiation. Defects in this gene are associated with Pitt-Hopkins syndrome (PTHS) [MIM:610954], a syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. |
Syndromic |
11 |
| DMPK |
dystrophia myotonica-protein kinase |
19 |
19q13.3 |
The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. |
Genetic Association |
5 |
| ADA |
adenosine deaminase |
20 |
20q12-q13.11 |
The encoded protein catalyzes the hydrolysis of adenosine to inosine. |
Genetic Association |
5 |
| KCNQ2 |
Potassium voltage-gated channel, KQT-like subfamily, member 2 |
20 |
20q13.3 |
Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Defects in this gene are involved in benign familial neonatal seizures 1 (BFNS1) [MIM:121200] and early infantile epileptic encephalopathy 7 (EIEE7) [MIM:613720]. |
Genetic association |
6 |
| MACROD2 |
MACRO domain containing 2 |
20 |
20p12.1 |
Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. |
Genetic Association |
12 |
| PLCB1 |
phospholipase C, beta 1 (phosphoinositide-specific) |
20 |
20p12 |
The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. |
Rare Single Gene variant |
6 |
| TGM3 |
transglutaminase 3 |
20 |
20q11.2 |
Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues, as well as conjugation of polyamines to proteins. |
Rare Single Gene variant |
5 |
| DYRK1A |
Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A |
21 |
21q22.13 |
This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Defects in DYRK1A are the cause of mental retardation autosomal dominant type 7 (MRD7) [MIM:614104]. |
Syndromic |
6 |
| ADORA2A |
adenosine A2a receptor |
22 |
22q11.23 |
The encoded protein is a receptor subtypes for adenosine |
Syndromic |
7 |
| SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
22 |
22q13.3 |
Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. |
Rare Single Gene variant |
33 |
| AFF2 |
AF4/FMR2 family, member 2 |
X |
Xq28 |
This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants. |
Syndromic |
10 |
| AR |
androgen receptor |
X |
Xq11.2-q12 |
The protein functions as a steroid-hormone activated transcription factor. |
Genetic Association |
6 |
| ARX |
aristaless related homeobox |
X |
Xp22.1-22.3 |
This gene is a homeobox-containing gene expressed during development. The encoded protein is a transcription factor required for normal brain development. |
Syndromic |
9 |
| ATRX |
alpha thalassemia/mental retardation syndrome X-linked |
X |
Xq21.1 |
The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. |
Syndromic |
7 |
| CACNA1F |
calcium channel, voltage-dependent, alpha 1F |
X |
Xp11.23 |
The encoded protein has low voltage-gated calcium channel activity. |
Genetic Association |
7 |
| CDKL5 |
cyclin-dependent kinase-like 5 |
X |
Xp22 |
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. |
Syndromic |
15 |
| CXCR3 |
chemokine (C-X-C motif) receptor 3 |
X |
Xq13 |
A G protein-coupled receptor with selectivity for the chemokines IP10, Mig and I-TAC. |
Rare Single Gene variant |
7 |
| DCX |
doublecortex, lissencephaly, X-linked (doublecortin) |
X |
Xq22.3-q23 |
The encoded protein binds to microtubules and participates in neuronal migration. |
Rare Single Gene variant |
6 |
| DMD |
dystrophin (muscular dystrophy, Duchenne and Becker types) |
X |
Xp21.2 |
The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. It is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Dystrophin is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers and is part of a complex which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. |
Genetic Association |
23 |
| FMR1 |
fragile X mental retardation 1 |
X |
Xq27.3 |
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. |
Functional |
30 |
| GLRA2 |
glycine receptor, alpha 2 |
X |
Xp22.1-p21.3 |
A ligand-gated channel mediating a chloride-dependent inhibitory neurotransmission |
Rare Single Gene variant |
8 |
| GRPR |
Gastrin-releasing peptide receptor |
X |
Xp22.2-p22.13 |
The encoded protein has G-protein coupled receptor activity. |
Genetic Association |
7 |
| IL1RAPL1 |
interleukin 1 receptor accessory protein-like 1 |
X |
Xp22.1-p21.3 |
This protein may regulate calcium-dependent exocytosis. |
Rare single gene variant |
14 |
| KDM5C |
Lysine (K)-specific demethylase 5C |
X |
Xp11.22-p11.21 |
Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Defects in KDM5C are the cause of mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]. |
Syndromic |
12 |
| MAOA |
monoamine oxidase A |
X |
Xp11.3 |
The encoded protein degrades amine neurotransmitters. |
Genetic Association |
11 |
| MECP2 |
Methyl CpG binding protein 2 |
X |
Xq28 |
The encoded protein has methylation-dependent transcriptional repressor activity . It is also involved in regulation of RNA splicing. |
Syndromic |
40 |
| MED12 |
mediator complex subunit 12 |
X |
Xq13 |
Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Defects in MED12 are the cause of Opitz-Kaveggia syndrome (OKS) [MIM:305450] (also known as FG syndrome type 1 (FGS1) or FG syndrome (FGS); an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation) and Lujan-Fryns syndrome (LUJFRYS) [MIM:309520] (also known as X-linked mental retardation with marfanoid habitus). |
Genetic Association |
11 |
| NLGN3 |
neuroligin 3 |
X |
Xq13.1 |
This gene encodes a member of a family of neuronal cell-adhesion proteins located at the postsynaptic side of the synapse. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. |
Rare Single Gene variant |
24 |
| NLGN4X |
neuroligin 4, X-linked |
X |
Xp22.32-p22.31 |
Neuroligins are cell-adhesion molecules at the postsynaptic side of the synapse . |
Rare Single Gene variant |
20 |
| OPHN1 |
oligophrenin 1 |
X |
Xq12 |
A Rho-GTPase-activating protein involved in cell migration and outgrowth of axons and dendrites. |
Rare Single Gene variant |
9 |
| PCDH19 |
protocadherin 19 |
X |
Xq13.3 |
A calcium-dependent cell-adhesion protein that is primarily expressed in the brain |
Rare Single Gene variant |
13 |
| PSMD10 |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 |
X |
Xq22.3 |
This gene encodes a non-ATPase proteasome subunit of the 19S regulator involved in protein degradation |
Rare Single Gene variant |
6 |
| PTCHD1 |
patched domain containing 1 |
X |
Xp22.11 |
PTCHD1 is suggested to be a transmembrane protein containing a patched-related domain with twelve transmembrane helices, highly related to the Hedgehog (Hh) receptors PATCHED1 (PTCH1) and PTCH2 as well as to Niemann-Pick Type C1 protein (NPC1). |
Rare Single Gene variant |
5 |
| RPL10 |
ribosomal protein L10 |
X |
Xq28 |
This gene encodes a ribosomal protein that is a component of the 60S subunit. Th e protein belongs to the L10E family of ribosomal proteins. |
Rare single gene variant |
8 |
| RPS6KA3 |
Ribosomal protein S6 kinase, 90kDa, polypeptide 3 |
X |
Xp22.2-p22.1 |
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene are associated with Coffin-Lowry syndrome (CLS) [MIM:303600], a X-linked mental retardation associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders, as well as with mental retardation, X-linked 19 (MRX19) [MIM:300844], a non-syndromic form of mild-to-moderate mental retardation. |
Syndromic |
6 |
| SLC6A8 |
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 |
X |
Xq28 |
The encoded protein has creatine:sodium symporter activity. |
Rare Single Gene variant |
6 |
| SLC9A6 |
solute carrier family 9 (sodium/hydrogen exchanger), member 6 |
X |
Xq26.3 |
This gene encodes a sodium-hydrogen exchanger that is a member of the solute carrier family 9. The encoded protein may be involved in regulating endosomal pH and volume. |
Syndromic |
7 |
| SYN1 |
Synapsin 1 |
X |
Xp11.23 |
Synapsin 1 is a peripheral membrane protein on synaptic vesicles that mediates vesicle binding to the cytoskeleton. |
Rare Single Gene variant |
14 |
| TSPAN7 |
tetraspanin 7 |
X |
Xp11.4 |
A cell surface glycoprotein with a role in the control of neurite outgrowth |
Rare Single Gene variant |
6 |
| UPF3B |
UPF3 regulator of nonsense transcripts homolog B (yeast) |
X |
Xq25-q26 |
Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is indepenedent of association with UPF2 and components of the EJC core. |
Syndromic |
6 |
| WNK3 |
WNK lysine deficient protein kinase 3 |
X |
Xp11.23-p11.21 |
The encoed protein belongs to the family of serine-threonine kinases that functions as modulator of diverse ion transport pathways. |
Rare Single Gene variant |
6 |
| ASMT |
acetylserotonin O-methyltransferase |
X,Y |
Xp22.3 or Yp11.3 |
melatonin biosynthesis |
Rare Single Gene variant, Genetic Association |
9 |
