Gene Scoring / Category 3 168 genes
Database updated on June 20, 2019
Category:
Reports:
Reports:
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ACHE | Acetylcholinesterase (Yt blood group) | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| ADA | adenosine deaminase | 20 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| ADCY3 | adenylate cyclase 3 | 2 | Rare Single Gene Mutation | 3 | 2 | ||
| AGAP2 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
| AGO1 | argonaute 1, RISC catalytic component | 1 | Rare Single Gene Mutation | 3 | 7 | ||
| AKAP9 | A kinase (PRKA) anchor protein 9 | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| AMPD1 | Adenosine monophosphate deaminase 1 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 3 | ||
| AMT | Aminomethyltransferase | 3 | Rare Single Gene Mutation | 3 | 1 | ||
| ANXA1 | Annexin A1 | 9 | Rare Single Gene Mutation | 3 | 2 | ||
| APBB1 | amyloid beta precursor protein binding family B member 1 | 11 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| APH1A | APH1A gamma secretase subunit | 1 | Rare Single Gene Mutation | 3 | 2 | ||
| AGO4 | argonaute RISC catalytic component 4 | 1 | Rare Single Gene Mutation | 3 | 2 | ||
| ASAP2 | ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| ASPM | abnormal spindle microtubule assembly | 1 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| ASTN2 | astrotactin 2 | 9 | Rare Single Gene Mutation, Genetic Association | 3 | 13 | ||
| ATP10A | Probable phospholipid-transporting ATPase VA | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 8 | ||
| ATP2B2 | ATPase, Ca++ transporting, plasma membrane 2 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
| AVPR1A | arginine vasopressin receptor 1A | 12 | Rare Single Gene Mutation, Genetic Association | 3 | 21 | ||
| BTAF1 | RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) | 10 | Rare Single Gene Mutation | 3 | 5 | ||
| CACNA1E | calcium voltage-gated channel subunit alpha1 E | 1 | Rare Single Gene Mutation | 3 | 9 | ||
| CACNB2 | Calcium channel, voltage-dependent, beta 2 subunit | 10 | Rare Single Gene Mutation, Genetic Association | 3 | 4 | ||
| CC2D1A | Coiled-coil and C2 domain containing 1A | 19 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| CCT4 | Chaperonin containing TCP1, subunit 4 (delta) | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| CDC42BPB | CDC42 binding protein kinase beta (DMPK-like) | 14 | Rare Single Gene Mutation | 3 | 7 | ||
| CELF4 | CUGBP, Elav-like family member 4 | 18 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
| CEP135 | centrosomal protein 135 | 4 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| CGNL1 | Cingulin-like 1 | 15 | Rare Single Gene Mutation | 3 | 3 | ||
| CCNG1 | cyclin G1 | 5 | Rare Single Gene Mutation | 3 | 1 | ||
| CDH13 | cadherin 13 | 16 | Rare Single Gene Mutation | 3 | 2 | ||
| CHMP1A | charged multivesicular body protein 1A | 16 | Rare Single Gene Mutation, Syndromic | 3 | 5 | ||
| CHRNA7 | cholinergic receptor, nicotinic, alpha 7 | 15 | Rare Single Gene Mutation | 3 | 13 | ||
| CIB2 | Calcium and integrin binding family member 2 | 15 | Rare Single Gene Mutation | 3 | 1 | ||
| CLASP1 | cytoplasmic linker associated protein 1 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | X | Syndromic | 3 | S | 4 | |
| CNR1 | cannabinoid receptor 1 (brain) | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 7 | ||
| CNTN5 | Contactin 5 | 11 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
| CNTN6 | Contactin 6 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 13 | ||
| CNTNAP4 | Contactin associated protein-like 4 | 16 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| CTTNBP2 | cortactin binding protein 2 | 7 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| CUL7 | Cullin 7 | 6 | Rare Single Gene Mutation | 3 | 4 | ||
| CPEB4 | cytoplasmic polyadenylation element binding protein 4 | 5 | Functional | 3 | 1 | ||
| CYFIP1 | cytoplasmic FMR1 interacting protein 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 16 | ||
| DAPP1 | Dual adaptor of phosphotyrosine and 3-phosphoinositides | 4 | Rare Single Gene Mutation | 3 | 1 | ||
| DENR | density-regulated protein | 12 | Rare Single Gene Mutation | 3 | 3 | ||
| DIP2A | DIP2 disco-interacting protein 2 homolog A (Drosophila) | 21 | Rare Single Gene Mutation | 3 | 5 | ||
| DISC1 | disrupted in schizophrenia 1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 34 | ||
| DLGAP1 | DLG associated protein 1 | 18 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| DOCK8 | dedicator of cytokinesis 8 | 9 | Rare Single Gene Mutation | 3 | 8 | ||
| DPP10 | Dipeptidyl-peptidase 10 | 2 | Rare Single Gene Mutation | 3 | 11 | ||
| DPYSL2 | dihydropyrimidinase like 2 | 8 | Rare Single Gene Mutation, Genetic Association | 3 | 12 | ||
| DLX3 | distal-less homeobox 3 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
| EFR3A | EFR3 homolog A (S. cerevisiae) | 8 | Rare Single Gene Mutation | 3 | 5 | ||
| ELAVL3 | ELAV like neuron-specific RNA binding protein 3 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| ELP4 | Elongator acetyltransferase complex subunit 4 | 11 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| EP400 | E1A binding protein p400 | 12 | Rare Single Gene Mutation | 3 | 6 | ||
| EMSY | EMSY, BRCA2 interacting transcriptional repressor | 11 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| ETFB | Electron-transfer-flavoprotein, beta polypeptide | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| FAM92B | Family with sequence similarity 92, member B | 16 | Rare Single Gene Mutation | 3 | 3 | ||
| FBN1 | Fibrillin 1 | 15 | Rare Single Gene Mutation | 3 | 10 | ||
| FOXP2 | forkhead box P2 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 41 | ||
| GGNBP2 | gametogenetin binding protein 2 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
| GPC4 | glypican 4 | X | Rare Single Gene Mutation | 3 | 2 | ||
| GPHN | Gephyrin | 14 | Rare Single Gene Mutation | 3 | 8 | ||
| GRID1 | Glutamate receptor, ionotropic, delta 1 | 10 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 18 | ||
| GRIK5 | Glutamate receptor, ionotropic, kainate 5 | 19 | Rare Single Gene Mutation | 3 | 8 | ||
| GABRG3 | gamma-aminobutyric acid type A receptor gamma3 subunit | 15 | Genetic Association | 3 | 9 | ||
| GALNT8 | polypeptide N-acetylgalactosaminyltransferase 8 | 12 | Rare Single Gene Mutation | 3 | 1 | ||
| HECTD4 | HECT domain E3 ubiquitin protein ligase 4 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
| HECW2 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | 2 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| HIVEP3 | human immunodeficiency virus type I enhancer binding protein 3 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 5 | ||
| HMGN1 | high mobility group nucleosome binding domain 1 | 21 | Genetic Association | 3 | 1 | ||
| ICA1 | islet cell autoantigen 1 | 7 | Rare Single Gene Mutation | 3 | 8 | ||
| ITGB3 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | 17 | Rare Single Gene Mutation, Genetic Association | 3 | 14 | ||
| JARID2 | jumonji and AT-rich interaction domain containing 2 | 6 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 11 | ||
| KAT6A | K(lysine) acetyltransferase 6A | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 12 | |
| KCNJ10 | potassium voltage-gated channel subfamily J member 10 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 11 | ||
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 20 | ||
| KDM5C | lysine demethylase 5C | X | Rare Single Gene Mutation, Syndromic, Functional | 3 | 22 | ||
| KIAA1586 | KIAA1586 | 6 | Rare Single Gene Mutation | 3 | 3 | ||
| KIRREL3 | Kin of IRRE like 3 (Drosophila) | 11 | Rare Single Gene Mutation | 3 | 15 | ||
| KCNS3 | potassium voltage-gated channel modifier subfamily S member 3 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| KDM4C | lysine demethylase 4C | 9 | Rare Single Gene Mutation | 3 | 1 | ||
| KIF14 | kinesin family member 14 | 1 | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
| KMT2E | Lysine (K)-specific methyltransferase 2E | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 7 | ||
| LAMB1 | laminin, beta 1 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| LMX1B | LIM homeobox transcription factor 1 beta | 9 | Genetic Association | 3 | 1 | ||
| MFRP | Membrane frizzled-related protein | 11 | Rare Single Gene Mutation | 3 | 6 | ||
| MYO5A | myosin VA | 15 | Rare Single Gene Mutation, Genetic Association | 3 | 4 | ||
| MIR137 | microRNA 137 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | 10 | ||
| MYO9B | Myosin IXB | 19 | Rare Single Gene Mutation | 3 | 4 | ||
| NAV2 | neuron navigator 2 | 11 | Rare Single Gene Mutation | 3 | 9 | ||
| NINL | Ninein-like | 20 | Rare Single Gene Mutation | 3 | 4 | ||
| NLGN1 | neuroligin 1 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 17 | ||
| NR3C2 | Nuclear receptor subfamily 3, group C, member 2 | 4 | Rare Single Gene Mutation | 3 | 4 | ||
| MYH10 | myosin heavy chain 10 | 17 | Rare Single Gene Mutation | 3 | 5 | ||
| NFE2L3 | nuclear factor, erythroid 2 like 3 | 7 | Rare Single Gene Mutation | 3 | 3 | ||
| NUAK1 | NUAK family, SNF1-like kinase, 1 | 12 | Rare Single Gene Mutation, Functional | 3 | 6 | ||
| OPHN1 | oligophrenin 1 | X | Rare Single Gene Mutation, Syndromic | 3 | 14 | ||
| OR52M1 | Olfactory receptor, family 52, subfamily M, member 1 | 11 | Rare Single Gene Mutation | 3 | 2 | ||
| OTUD7A | OTU deubiquitinase 7A | 15 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| OXTR | oxytocin receptor | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 44 | ||
| P2RX5 | Purinergic receptor P2X, ligand gated ion channel, 5 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
| P4HA2 | Prolyl 4-hydroxylase, alpha polypeptide II | 5 | Rare Single Gene Mutation | 3 | 4 | ||
| PAH | Phenylalanine hydroxylase | 12 | Rare Single Gene Mutation, Syndromic | 3 | 3 | ||
| PARD3B | Par-3 partitioning defective 3 homolog B (C. elegans) | 2 | Rare Single Gene Mutation, Genetic Association | 3 | 7 | ||
| NUDCD2 | NudC domain containing 2 | 5 | Rare Single Gene Mutation | 3 | 2 | ||
| PAK2 | p21 (RAC1) activated kinase 2 | 3 | Rare Single Gene Mutation | 3 | 4 | ||
| PAX5 | Paired box 5 | 9 | Rare Single Gene Mutation | 3 | 5 | ||
| PER2 | period circadian clock 2 | 2 | Rare Single Gene Mutation | 3 | 2 | ||
| PHF2 | PHD finger protein 2 | 9 | Rare Single Gene Mutation | 3 | 5 | ||
| PHRF1 | PHD and ring finger domains 1 | 11 | Rare Single Gene Mutation | 3 | 4 | ||
| PLCB1 | phospholipase C, beta 1 (phosphoinositide-specific) | 20 | Rare Single Gene Mutation | 3 | 7 | ||
| PLXNA4 | Plexin A4 | 7 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| PLXNB1 | plexin B1 | 3 | Rare Single Gene Mutation | 3 | 3 | ||
| PREX1 | Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 | 20 | Genetic Association | 3 | 1 | ||
| PRICKLE1 | Prickle homolog 1 (Drosophila) | 12 | Rare Single Gene Mutation, Syndromic, Functional | 3 | 4 | ||
| PRICKLE2 | prickle planar cell polarity protein 2 | 3 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| PRKCB | protein kinase C beta | 16 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Syndromic, Genetic Association | 3 | S | 6 | |
| PRKN | parkin RBR E3 ubiquitin protein ligase | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 15 | ||
| PTK7 | Protein tyrosine kinase 7 (inactive) | 6 | Rare Single Gene Mutation | 3 | 4 | ||
| PYHIN1 | Pyrin and HIN domain family, member 1 | 1 | Rare Single Gene Mutation | 3 | 4 | ||
| RAB2A | RAB2A, member RAS oncogene family | 8 | Rare Single Gene Mutation | 3 | 8 | ||
| RAB43 | RAB43, member RAS oncogene family | 3 | Rare Single Gene Mutation | 3 | 2 | ||
| RBFOX1 | RNA binding protein, fox-1 homolog (C. elegans) 1 | 16 | Rare Single Gene Mutation, Genetic Association | 3 | 33 | ||
| RBM27 | RNA binding motif protein 27 | 5 | Rare Single Gene Mutation | 3 | 3 | ||
| PHB | prohibitin | 17 | Genetic Association | 3 | 1 | ||
| PON1 | paraoxonase 1 | 7 | Genetic Association | 3 | 5 | ||
| ROBO2 | roundabout guidance receptor 2 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 8 | ||
| SAE1 | SUMO1 activating enzyme subunit 1 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| SBF1 | SET binding factor 1 | 22 | Rare Single Gene Mutation | 3 | 8 | ||
| SEMA5A | sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 16 | ||
| SHANK1 | SH3 and multiple ankyrin repeat domains 1 | 19 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| SHOX | short stature homeobox | X,Y | Rare Single Gene Mutation | 3 | 2 | ||
| SLC12A5 | Solute carrier family 12 (potassium/chloride transporter), member 5 | 20 | Rare Single Gene Mutation | 3 | 5 | ||
| SLC35B1 | solute carrier family 35 member B1 | 17 | Genetic Association | 3 | 1 | ||
| SLC38A10 | solute carrier family 38, member 10 | 17 | Rare Single Gene Mutation | 3 | 1 | ||
| SLC6A3 | Solute carrier family 6 (neurotransmitter transporter), member 3 | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 15 | ||
| SLC7A3 | Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 | X | Rare Single Gene Mutation | 3 | 2 | ||
| SLC7A5 | solute carrier family 7 member 5 | 16 | Functional | 3 | 2 | ||
| SMAD4 | SMAD family member 4 | 18 | Rare Single Gene Mutation | 3 | 4 | ||
| SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 19 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| SPARCL1 | SPARC like 1 | 4 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| STXBP5 | Syntaxin binding protein 5 (tomosyn) | 6 | Rare Single Gene Mutation | 3 | 6 | ||
| TAF6 | TATA-box binding protein associated factor 6 | 7 | Rare Single Gene Mutation | 3 | 2 | ||
| TBC1D31 | TBC1 domain family, member 31 | 8 | Rare Single Gene Mutation | 3 | 3 | ||
| SLITRK5 | SLIT and NTRK like family member 5 | 13 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
| SNX5 | sorting nexin 5 | 20 | Rare Single Gene Mutation | 3 | 3 | ||
| SPEN | spenfamily transcriptional repressor | 1 | Rare Single Gene Mutation | 3 | 6 | ||
| ST8SIA2 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | 15 | Rare Single Gene Mutation, Genetic Association | 3 | 8 | ||
| TCF7L2 | Transcription factor 7-like 2 (T-cell specific, HMG-box) | 10 | Rare Single Gene Mutation | 3 | 3 | ||
| TERF2 | Telomeric repeat binding factor 2 | 16 | Rare Single Gene Mutation | 3 | 3 | ||
| TET2 | Tet methylcytosine dioxygenase 2 | 4 | Rare Single Gene Mutation | 3 | 4 | ||
| TMLHE | trimethyllysine hydroxylase, epsilon | X | Rare Single Gene Mutation, Genetic Association | 3 | 5 | ||
| TRAPPC9 | trafficking protein particle complex 9 | 8 | Rare Single Gene Mutation, Syndromic | 3 | 13 | ||
| TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | 11 | Rare Single Gene Mutation | 3 | 2 | ||
| TRPM1 | transient receptor potential cation channel subfamily M member 1 | 15 | Rare Single Gene Mutation | 3 | 3 | ||
| UBE3C | Ubiquitin protein ligase E3C | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| UBR5 | ubiquitin protein ligase E3 component n-recognin 5 | 8 | Rare Single Gene Mutation | 3 | 6 | ||
| UNC79 | unc-79 homolog, NALCN channel complex subunit | 14 | Rare Single Gene Mutation | 3 | 3 | ||
| USP45 | Ubiquitin specific peptidase 45 | 6 | Rare Single Gene Mutation | 3 | 2 | ||
| VIL1 | Villin 1 | 2 | Rare Single Gene Mutation | 3 | 1 | ||
| WWOX | WW domain containing oxidoreductase | 16 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
| ZC3H4 | zinc finger CCCH-type containing 4 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| ZMYND11 | Zinc finger, MYND-type containing 11 | 10 | Rare Single Gene Mutation, Syndromic | 3 | 10 | ||
| WDFY4 | WDFY family member 4 | 10 | Rare Single Gene Mutation | 3 | 5 | ||
| ZNF804A | Zinc finger protein 804A | 2 | Rare Single Gene Mutation, Genetic Association | 3 | 13 |