{ "url": "https://dantelabs.com/ro/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": "Epilepsie (panel complet)", "diseases": [ { "mondoId": "MONDO:0100148", "name": "Tulburare neurodezvoltamentală complexă legată de cromozomul X", "genes": 25, "inheritance": null, "description": "O tulburare neurodezvoltamentală complexă, transmisă prin moștenire legată de cromozomul X, caracterizată prin deficiență intelectuală, autism și epilepsie.", "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": "Epilepsie", "genes": 171, "inheritance": null, "description": "O tulburare cerebrală caracterizată prin episoade de descărcare neuronală anormal de intensă, care duc la episoade tranzitorii de disfuncție neurologică senzorială sau motorie ori de disfuncție psihică. Aceste episoade pot fi sau nu asociate cu pierderea cunoștinței sau cu convulsii.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/epilepsy-report" }, { "slug": "intellectual-disability", "name": "Dizabilitate intelectuală", "diseases": [ { "mondoId": "MONDO:0001071", "name": "dizabilitate intelectuală", "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/ro/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/ro/genes/pcdh19" }, { "slug": "syn1", "symbol": "SYN1", "name": "synapsin I", "shared": 3, "url": "https://dantelabs.com/ro/genes/syn1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 2, "url": "https://dantelabs.com/ro/genes/arx" }, { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 2, "url": "https://dantelabs.com/ro/genes/atp6ap2" }, { "slug": "clcn4", "symbol": "CLCN4", "name": "Cl-/H+ antiporter 4", "shared": 2, "url": "https://dantelabs.com/ro/genes/clcn4" }, { "slug": "cnksr2", "symbol": "CNKSR2", "name": "connector enhancer of kinase suppressor of Ras 2", "shared": 2, "url": "https://dantelabs.com/ro/genes/cnksr2" }, { "slug": "fgf13", "symbol": "FGF13", "name": "fibroblast growth factor 13", "shared": 2, "url": "https://dantelabs.com/ro/genes/fgf13" }, { "slug": "frmpd4", "symbol": "FRMPD4", "name": "FERM and PDZ domain containing 4", "shared": 2, "url": "https://dantelabs.com/ro/genes/frmpd4" }, { "slug": "ftsj1", "symbol": "FTSJ1", "name": "FtsJ RNA 2'-O-methyltransferase 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/ftsj1" }, { "slug": "gria3", "symbol": "GRIA3", "name": "glutamate ionotropic receptor AMPA type subunit 3", "shared": 2, "url": "https://dantelabs.com/ro/genes/gria3" }, { "slug": "grin1", "symbol": "GRIN1", "name": "glutamate ionotropic receptor NMDA type subunit 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/grin1" }, { "slug": "grin2b", "symbol": "GRIN2B", "name": "glutamate ionotropic receptor NMDA type subunit 2B", "shared": 2, "url": "https://dantelabs.com/ro/genes/grin2b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }