Gene Scoring / Category 3 143 genes
Database updated on March 28, 2024
Category:
Reports:
Reports:
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ABL2 | ABL proto-oncogene 2, non-receptor tyrosine kinase | 1 | Rare Single Gene Mutation, Functional | 3 | 10 | ||
| ADGRL1 | adhesion G protein-coupled receptor L1 | 19 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| AGAP5 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 | 10 | Rare Single Gene Mutation | 3 | 2 | ||
| ALDH1L1 | aldehyde dehydrogenase 1 family member L1 | 3 | Rare Single Gene Mutation | 3 | 7 | ||
| ARHGEF2 | Rho/Rac guanine nucleotide exchange factor 2 | 1 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| ATP2B1 | ATPase plasma membrane Ca2+ transporting 1 | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 2 | |
| BACE1 | beta-secretase 1 | 11 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| BAIAP2L1 | BAR/IMD domain containing adaptor protein 2 like 1 | 7 | Rare Single Gene Mutation | 3 | 6 | ||
| BCL11B | BCL11 transcription factor B | 14 | Rare Single Gene Mutation, Syndromic, Functional | 3 | 7 | ||
| BRINP3 | BMP/retinoic acid inducible neural specific 3 | 1 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| CACNB1 | calcium voltage-gated channel auxiliary subunit beta 1 | 17 | Rare Single Gene Mutation | 3 | 3 | ||
| CAMK2D | calcium/calmodulin dependent protein kinase II delta | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 2 | |
| CAT | catalase | 11 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| CBX1 | chromobox 1 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 3 | |
| CDH2 | cadherin 2 | 18 | Rare Single Gene Mutation, Syndromic | 3 | S | 8 | |
| CDK19 | cyclin dependent kinase 19 | 6 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| CDK5RAP2 | CDK5 regulatory subunit associated protein 2 | 9 | Rare Single Gene Mutation, Syndromic | 3 | 14 | ||
| CDON | cell adhesion associated, oncogene regulated | 11 | Rare Single Gene Mutation | 3 | 4 | ||
| CERT1 | ceramide transporter 1 | 5 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| CHD9 | chromodomain helicase DNA binding protein 9 | 16 | Rare Single Gene Mutation | 3 | 8 | ||
| CHM | CHMRab escort protein | X | Rare Single Gene Mutation | 3 | 7 | ||
| CHST2 | carbohydrate sulfotransferase 2 | 3 | Rare Single Gene Mutation | 3 | 3 | ||
| CLIP2 | CAP-Gly domain containing linker protein 2 | 7 | Genetic Association | 3 | 1 | ||
| CSMD3 | CUB and Sushi multiple domains 3 | 8 | Rare Single Gene Mutation, Functional | 3 | 10 | ||
| CSNK1G1 | casein kinase 1 gamma 1 | 15 | Rare Single Gene Mutation, Syndromic | 3 | S | 3 | |
| CTR9 | CTR9homolog, Paf1/RNA polymerase II complex component | 11 | Rare Single Gene Mutation, Syndromic | 3 | S | 9 | |
| DGKI | diacylglycerol kinase iota | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 4 | ||
| DHX9 | DExH-box helicase 9 | 1 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| DNM1 | dynamin 1 | 9 | Rare Single Gene Mutation | 3 | 10 | ||
| EIF4G1 | eukaryotic translation initiation factor 4 gamma 1 | 3 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| EIF5A | eukaryotic translation initiation factor 5A | 17 | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
| ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | 6 | Rare Single Gene Mutation | 3 | 5 | ||
| EPHB1 | EPH receptor B1 | 3 | Rare Single Gene Mutation | 3 | 10 | ||
| FABP4 | fatty acid binding protein 4 | 8 | Rare Single Gene Mutation | 3 | 3 | ||
| FBXL13 | F-box and leucine rich repeat protein 13 | 7 | Rare Single Gene Mutation | 3 | 2 | ||
| FGF13 | fibroblast growth factor 13 | X | Syndromic | 3 | S | 2 | |
| FGF14 | fibroblast growth factor 14 | 13 | Rare Single Gene Mutation | 3 | 2 | ||
| FLNA | filamin A | X | Rare Single Gene Mutation, Syndromic, Functional | 3 | 11 | ||
| FXN | frataxin | 9 | Rare Single Gene Mutation | 3 | 2 | ||
| FRMD5 | FERM domain containing 5 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 5 | |
| FRYL | FRY like transcription coactivator | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 8 | |
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma 2 | 5 | Rare Single Gene Mutation, Genetic Association | 3 | 11 | ||
| GPC5 | glypican 5 | 13 | Rare Single Gene Mutation | 3 | 9 | ||
| GRB10 | growth factor receptor bound protein 10 | 7 | Rare Single Gene Mutation, Functional | 3 | 12 | ||
| HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 6 | Rare Single Gene Mutation, Syndromic | 3 | 12 | ||
| HCN1 | Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 | 5 | Rare Single Gene Mutation, Genetic Association | 3 | 14 | ||
| IGF1 | insulin like growth factor 1 | 12 | Rare Single Gene Mutation, Functional | 3 | 8 | ||
| IKZF1 | IKAROS family zinc finger 1 | 7 | Rare Single Gene Mutation | 3 | 6 | ||
| ITGA8 | integrin subunit alpha 8 | 10 | Rare Single Gene Mutation | 3 | 7 | ||
| KAT6B | lysine acetyltransferase 6B | 10 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
| KCNA2 | potassium voltage-gated channel subfamily A member 2 | 1 | Rare Single Gene Mutation | 3 | 11 | ||
| KCNA3 | potassium voltage-gated channel subfamily A member 3 | 1 | Rare Single Gene Mutation | 3 | 2 | ||
| KCNC2 | potassium voltage-gated channel subfamily C member 2 | 12 | Rare Single Gene Mutation | 3 | 13 | ||
| KCNH5 | potassium voltage-gated channel subfamily H member 5 | 14 | Rare Single Gene Mutation | 3 | 5 | ||
| KDM2A | lysine demethylase 2A | 11 | Rare Single Gene Mutation | 3 | 9 | ||
| KDM3A | lysine demethylase 3A | 2 | Rare Single Gene Mutation | 3 | 4 | ||
| KLF7 | Kruppel like factor 7 | 2 | Rare Single Gene Mutation, Functional | 3 | 14 | ||
| KNG1 | kininogen 1 | 3 | Rare Single Gene Mutation | 3 | 2 | ||
| LAS1L | LAS1 like ribosome biogenesis factor | X | Rare Single Gene Mutation, Syndromic | 3 | 5 | ||
| LDLR | low density lipoprotein receptor | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| LMTK3 | lemur tyrosine kinase 3 | 19 | Rare Single Gene Mutation, Functional | 3 | 6 | ||
| MACF1 | microtubule actin crosslinking factor 1 | 1 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 9 | |
| MAP4K1 | mitogen-activated protein kinase kinase kinase kinase 1 | 19 | Rare Single Gene Mutation | 3 | 5 | ||
| MAPK8IP1 | mitogen-activated protein kinase 8 interacting protein 1 | 11 | Rare Single Gene Mutation | 3 | 4 | ||
| MAPT | microtubule associated protein tau | 17 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 4 | ||
| MAST3 | microtubule associated serine/threonine kinase 3 | 19 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| KIZ | kizuna centrosomal protein | 20 | Genetic Association, Functional | 3 | 2 | ||
| MINK1 | misshapen like kinase 1 | 17 | Rare Single Gene Mutation | 3 | 8 | ||
| MSL2 | MSL complex subunit 2 | 3 | Rare Single Gene Mutation | 3 | 5 | ||
| MSRA | methionine sulfoxide reductase A | 8 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 13 | ||
| MSX2 | msh homeobox 2 | 5 | Rare Single Gene Mutation, Syndromic | 3 | S | 2 | |
| MYLK | myosin light chain kinase | 3 | Rare Single Gene Mutation | 3 | 4 | ||
| MYOCD | myocardin | 17 | Rare Single Gene Mutation | 3 | 3 | ||
| NAA10 | N-alpha-acetyltransferase 10, NatA catalytic subunit | X | Rare Single Gene Mutation, Syndromic | 3 | S | 13 | |
| NASP | nuclear autoantigenic sperm protein | 1 | Rare Single Gene Mutation | 3 | 3 | ||
| NCAPH2 | non-SMC condensin II complex subunit H2 | 22 | Rare Single Gene Mutation | 3 | 1 | ||
| NKX2-2 | NK2 homeobox 2 | 20 | Genetic Association, Functional | 3 | 2 | ||
| NPFFR2 | neuropeptide FF receptor 2 | 4 | Rare Single Gene Mutation | 3 | 7 | ||
| NPTN | neuroplastin | 15 | Rare Single Gene Mutation | 3 | 3 | ||
| NXF1 | nuclear RNA export factor 1 | 11 | Rare Single Gene Mutation | 3 | 2 | ||
| PABPC1 | poly(A) binding protein cytoplasmic 1 | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| PC | pyruvate carboxylase | 11 | Rare Single Gene Mutation | 3 | 8 | ||
| PDE3B | phosphodiesterase 3B | 11 | Rare Single Gene Mutation | 3 | 8 | ||
| PEBP4 | phosphatidylethanolamine binding protein 4 | 8 | Rare Single Gene Mutation | 3 | 2 | ||
| PHF14 | PHD finger protein 14 | 7 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | X | Rare Single Gene Mutation | 3 | 5 | ||
| PHLPP1 | PH domain and leucine rich repeat protein phosphatase 1 | 18 | Rare Single Gene Mutation | 3 | 5 | ||
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 3 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
| PJA1 | praja ring finger ubiquitin ligase 1 | X | Syndromic | 3 | S | 1 | |
| PLEKHA8 | pleckstrin homology domain containing A8 | 7 | Rare Single Gene Mutation | 3 | 2 | ||
| PLPPR4 | phospholipid phosphatase related 4 | 1 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| POLR2A | RNA polymerase II subunit A | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 11 | |
| POLR3A | RNA polymerase III subunit A | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | 11 | |
| PPFIA3 | PTPRF interacting protein alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 8 | |
| PPP3CA | protein phosphatase 3 catalytic subunit alpha | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 13 | |
| PRPF19 | pre-mRNA processing factor 19 | 11 | Rare Single Gene Mutation | 3 | 3 | ||
| PRPF8 | pre-mRNA processing factor 8 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 9 | |
| PRR25 | proline rich 25 | 16 | Rare Single Gene Mutation | 3 | 2 | ||
| PTDSS1 | phosphatidylserine synthase 1 | 8 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| RFX4 | regulatory factor X4 | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 2 | |
| RFX7 | regulatory factor X7 | 15 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| RIMS2 | regulating synaptic membrane exocytosis 2 | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 6 | |
| RPH3A | rabphilin 3A | 12 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| SCGN | secretagogin, EF-hand calcium binding protein | 6 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| SENP1 | SUMO specific peptidase 1 | 12 | Rare Single Gene Mutation | 3 | 3 | ||
| SENP6 | SUMO specific peptidase 6 | 6 | Rare Single Gene Mutation | 3 | 4 | ||
| SH3RF1 | SH3 domain containing ring finger 1 | 4 | Rare Single Gene Mutation, Functional | 3 | 5 | ||
| SLC1A2 | Solute carrier family 1 (glial high affinity glutamate transporter), member 2 | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 10 | ||
| SLC23A1 | solute carrier family 23 member 1 | 5 | Rare Single Gene Mutation | 3 | 5 | ||
| SLFN5 | schlafen family member 5 | 17 | Rare Single Gene Mutation | 3 | 4 | ||
| SNCAIP | synuclein alpha interacting protein | 5 | Rare Single Gene Mutation | 3 | 3 | ||
| SRSF1 | serine and arginine rich splicing factor 1 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| SYBU | syntabulin | 8 | Rare Single Gene Mutation | 3 | 1 | ||
| SYCE1 | synaptonemal complex central element protein 1 | 10 | Rare Single Gene Mutation | 3 | 3 | ||
| SYP | synaptophysin | X | Rare Single Gene Mutation | 3 | 4 | ||
| TBX22 | T-box transcription factor 22 | X | Rare Single Gene Mutation | 3 | 2 | ||
| TCEAL1 | transcription elongation factor A like 1 | X | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| TFB2M | transcription factor B2, mitochondrial | 1 | Rare Single Gene Mutation | 3 | 1 | ||
| TGM1 | transglutaminase 1 | 14 | Rare Single Gene Mutation | 3 | 3 | ||
| TMEM134 | transmembrane protein 134 | 11 | Rare Single Gene Mutation | 3 | 3 | ||
| TNPO3 | transportin 3 | 7 | Rare Single Gene Mutation | 3 | 8 | ||
| TNS2 | tensin 2 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
| TRAPPC2L | trafficking protein particle complex 2 like | 16 | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
| TRIM32 | tripartite motif containing 32 | 9 | Rare Single Gene Mutation, Functional | 3 | 5 | ||
| TRIM8 | tripartite motif containing 8 | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| TRPC5 | transient receptor potential cation channel subfamily C member 5 | X | Rare Single Gene Mutation | 3 | 7 | ||
| TRPM6 | transient receptor potential cation channel subfamily M member 6 | 9 | Rare Single Gene Mutation | 3 | 6 | ||
| U2AF2 | U2 small nuclear RNA auxiliary factor 2 | 19 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| TRPC4 | transient receptor potential cation channel subfamily C member 4 | 13 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 5 | ||
| UNC5D | unc-5 netrin receptor D | 8 | Rare Single Gene Mutation | 3 | 5 | ||
| USP30 | ubiquitin specific peptidase 30 | 12 | Rare Single Gene Mutation | 3 | 3 | ||
| VCP | valosin containing protein | 9 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| VPS54 | VPS54subunit of GARP complex | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| VWA7 | von Willebrand factor A domain containing 7 | 6 | Rare Single Gene Mutation | 3 | 3 | ||
| USP27X | ubiquitin specific peptidase 27 X-linked | X | Rare Single Gene Mutation | 3 | 6 | ||
| WDR37 | WD repeat domain 37 | 10 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| WWP1 | WW domain containing E3 ubiquitin protein ligase 1 | 8 | Rare Single Gene Mutation | 3 | 2 | ||
| XRCC6 | X-ray repair cross complementing 6 | 22 | Rare Single Gene Mutation | 3 | 2 | ||
| YWHAG | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | 7 | Rare Single Gene Mutation, Syndromic | 3 | S | 13 | |
| YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | 16 | ||
| ZBTB47 | zinc finger and BTB domain containing 47 | 3 | Rare Single Gene Mutation | 3 | 1 | ||
| ZFHX3 | zinc finger homeobox 3 | 16 | Rare Single Gene Mutation, Syndromic | 3 | S | 12 | |
| ZFX | zinc finger protein X-linked | X | Rare Single Gene Mutation, Syndromic | 3 | S | 4 |