{ "url": "https://dantelabs.com/lt/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": "Epilepsija (pilnas tyrimas)", "diseases": [ { "mondoId": "MONDO:0100148", "name": "X chromosomos sukeltas sudėtingas neurovystymosi sutrikimas", "genes": 25, "inheritance": null, "description": "Sudėtingas neurovystymosi sutrikimas, paveldimas X chromosomos ryšiu, pasireiškiantis intelekto negalia, autizmu ir epilepsija.", "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": "Epilepsija", "genes": 171, "inheritance": null, "description": "Smegenų sutrikimas, pasireiškiantis epizodais, kai neuronai nenormaliai intensyviai išsikrauna, dėl ko atsiranda trumpalaikiai jutimo ar judesio neurologinio funkcijos sutrikimo arba psichikos funkcijos sutrikimo epizodai. Šie epizodai gali būti susiję arba nesusiję su sąmonės netekimu ar traukuliais.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/epilepsy-report" }, { "slug": "intellectual-disability", "name": "Intelektinė negalia", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intelektinė negalia", "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/lt/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/lt/genes/pcdh19" }, { "slug": "syn1", "symbol": "SYN1", "name": "synapsin I", "shared": 3, "url": "https://dantelabs.com/lt/genes/syn1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 2, "url": "https://dantelabs.com/lt/genes/arx" }, { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp6ap2" }, { "slug": "clcn4", "symbol": "CLCN4", "name": "Cl-/H+ antiporter 4", "shared": 2, "url": "https://dantelabs.com/lt/genes/clcn4" }, { "slug": "cnksr2", "symbol": "CNKSR2", "name": "connector enhancer of kinase suppressor of Ras 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/cnksr2" }, { "slug": "fgf13", "symbol": "FGF13", "name": "fibroblast growth factor 13", "shared": 2, "url": "https://dantelabs.com/lt/genes/fgf13" }, { "slug": "frmpd4", "symbol": "FRMPD4", "name": "FERM and PDZ domain containing 4", "shared": 2, "url": "https://dantelabs.com/lt/genes/frmpd4" }, { "slug": "ftsj1", "symbol": "FTSJ1", "name": "FtsJ RNA 2'-O-methyltransferase 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/ftsj1" }, { "slug": "gria3", "symbol": "GRIA3", "name": "glutamate ionotropic receptor AMPA type subunit 3", "shared": 2, "url": "https://dantelabs.com/lt/genes/gria3" }, { "slug": "grin1", "symbol": "GRIN1", "name": "glutamate ionotropic receptor NMDA type subunit 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/grin1" }, { "slug": "grin2b", "symbol": "GRIN2B", "name": "glutamate ionotropic receptor NMDA type subunit 2B", "shared": 2, "url": "https://dantelabs.com/lt/genes/grin2b" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }