{ "url": "https://dantelabs.com/hu/genes/arhgef9", "gene": { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "hgnc": "HGNC:14561", "summary": null, "location": "Xq11.1", "locusType": "gene with protein product", "aliases": [ "KIAA0424", "PEM-2" ], "previousSymbols": [], "ensemblId": "ENSG00000131089", "entrezId": 23229, "omim": [ "300429" ], "uniprot": [ "O43307" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 63634967, "end": 63785214, "strand": "-", "ensemblTranscript": "ENST00000671741.2", "refseqTranscript": "NM_001353921.2", "ensemblProtein": "ENSP00000500715.1", "refseqProtein": "NP_001340850.1", "exons": [ { "start": 63634967, "end": 63638209 }, { "start": 63643980, "end": 63644048 }, { "start": 63655494, "end": 63655737 }, { "start": 63665886, "end": 63666017 }, { "start": 63674038, "end": 63674167 }, { "start": 63678340, "end": 63678572 }, { "start": 63697125, "end": 63697304 }, { "start": 63706258, "end": 63706449 }, { "start": 63724532, "end": 63724711 }, { "start": 63785116, "end": 63785214 } ], "cds": { "start": 63638028, "end": 63785145 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 62854847, "end": 63005426, "strand": "-" }, "neighbourhood": { "release": "116", "start": 63210091, "end": 64210090, "genes": [ { "symbol": "SPIN4", "ensemblId": "ENSG00000186767", "biotype": "protein_coding", "start": 63347228, "end": 63351332, "strand": "-", "slug": "spin4" }, { "symbol": "", "ensemblId": "ENSG00000288661", "biotype": "protein_coding", "start": 63754485, "end": 63754664, "strand": "-" }, { "symbol": "AMER1", "ensemblId": "ENSG00000184675", "biotype": "protein_coding", "start": 64185117, "end": 64205708, "strand": "-", "slug": "amer1" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsy (Full Panel)", "diseases": [ { "mondoId": "MONDO:0100148", "name": "X-Linked Complex Neurodevelopmental Disorder", "genes": 25, "inheritance": null, "description": "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0005027", "name": "Epilepsy", "genes": 171, "inheritance": null, "description": "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/epilepsy-report" }, { "slug": "intellectual-disability", "name": "Intellectual Disability", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intellectual disability", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "eeg-with-temporal-focal-spikes", "name": "EEG with temporal focal spikes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-with-temporal-focal-spikes" }, { "slug": "epileptic-encephalopathy", "name": "Epileptic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "exaggerated-startle-response", "name": "Exaggerated startle response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exaggerated-startle-response" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "frontal-polymicrogyria", "name": "Frontal polymicrogyria", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frontal-polymicrogyria" }, { "slug": "overgrowth", "name": "General overgrowth", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/overgrowth" }, { "slug": "generalized-tonic-seizure", "name": "Generalized tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-tonic-seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tonic-seizure" }, { "slug": "trigonocephaly", "name": "Triangular head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/trigonocephaly" }, { "slug": "hypoplasia-of-the-frontal-lobes", "name": "Underdeveloped frontal lobe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes" } ], "related": [ { "slug": "pcdh19", "symbol": "PCDH19", "name": "protocadherin 19", "shared": 3, "url": "https://dantelabs.com/hu/genes/pcdh19" }, { "slug": "syn1", "symbol": "SYN1", "name": "synapsin I", "shared": 3, "url": "https://dantelabs.com/hu/genes/syn1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 2, "url": "https://dantelabs.com/hu/genes/arx" }, { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 2, "url": "https://dantelabs.com/hu/genes/atp6ap2" }, { "slug": "clcn4", "symbol": "CLCN4", "name": "Cl-/H+ antiporter 4", "shared": 2, "url": "https://dantelabs.com/hu/genes/clcn4" }, { "slug": "cnksr2", "symbol": "CNKSR2", "name": "connector enhancer of kinase suppressor of Ras 2", "shared": 2, "url": "https://dantelabs.com/hu/genes/cnksr2" }, { "slug": "fgf13", "symbol": "FGF13", "name": "fibroblast growth factor 13", "shared": 2, "url": "https://dantelabs.com/hu/genes/fgf13" }, { "slug": "frmpd4", "symbol": "FRMPD4", "name": "FERM and PDZ domain containing 4", "shared": 2, "url": "https://dantelabs.com/hu/genes/frmpd4" }, { "slug": "ftsj1", "symbol": "FTSJ1", "name": "FtsJ RNA 2'-O-methyltransferase 1", "shared": 2, "url": "https://dantelabs.com/hu/genes/ftsj1" }, { "slug": "gria3", "symbol": "GRIA3", "name": "glutamate ionotropic receptor AMPA type subunit 3", "shared": 2, "url": "https://dantelabs.com/hu/genes/gria3" }, { "slug": "grin1", "symbol": "GRIN1", "name": "glutamate ionotropic receptor NMDA type subunit 1", "shared": 2, "url": "https://dantelabs.com/hu/genes/grin1" }, { "slug": "grin2b", "symbol": "GRIN2B", "name": "glutamate ionotropic receptor NMDA type subunit 2B", "shared": 2, "url": "https://dantelabs.com/hu/genes/grin2b" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }