{
  "url": "https://dantelabs.com/el/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,
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        {
          "start": 63665886,
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        },
        {
          "start": 63674038,
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        {
          "start": 63678340,
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        },
        {
          "start": 63697125,
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        },
        {
          "start": 63706258,
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        },
        {
          "start": 63724532,
          "end": 63724711
        },
        {
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          "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": "Επιληψία (Πλήρες Πάνελ)",
        "diseases": [
          {
            "mondoId": "MONDO:0100148",
            "name": "Σύνθετη Νευροαναπτυξιακή Διαταραχή Συνδεδεμένη με το Χρωμόσωμα X",
            "genes": 25,
            "inheritance": null,
            "description": "Σύνθετη νευροαναπτυξιακή διαταραχή που μεταβιβάζεται με κληρονομικότητα συνδεδεμένη με το χρωμόσωμα X και χαρακτηρίζεται από διανοητική αναπηρία, αυτισμό και επιληψία.",
            "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": "Επιληψία",
            "genes": 171,
            "inheritance": null,
            "description": "Εγκεφαλική διαταραχή που χαρακτηρίζεται από επεισόδια παθολογικά αυξημένης νευρωνικής εκφόρτισης, που έχουν ως αποτέλεσμα παροδικά επεισόδια αισθητηριακής ή κινητικής νευρολογικής δυσλειτουργίας ή ψυχικής δυσλειτουργίας. Τα επεισόδια αυτά μπορεί να σχετίζονται ή να μην σχετίζονται με απώλεια συνείδησης ή σπασμούς.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/epilepsy-report"
      },
      {
        "slug": "intellectual-disability",
        "name": "Νοητική αναπηρία",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "νοητική αναπηρία",
            "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/el/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/el/genes/pcdh19"
      },
      {
        "slug": "syn1",
        "symbol": "SYN1",
        "name": "synapsin I",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/syn1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/arx"
      },
      {
        "slug": "atp6ap2",
        "symbol": "ATP6AP2",
        "name": "ATPase H+ transporting accessory protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/atp6ap2"
      },
      {
        "slug": "clcn4",
        "symbol": "CLCN4",
        "name": "Cl-/H+ antiporter 4",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/clcn4"
      },
      {
        "slug": "cnksr2",
        "symbol": "CNKSR2",
        "name": "connector enhancer of kinase suppressor of Ras 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/cnksr2"
      },
      {
        "slug": "fgf13",
        "symbol": "FGF13",
        "name": "fibroblast growth factor 13",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/fgf13"
      },
      {
        "slug": "frmpd4",
        "symbol": "FRMPD4",
        "name": "FERM and PDZ domain containing 4",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/frmpd4"
      },
      {
        "slug": "ftsj1",
        "symbol": "FTSJ1",
        "name": "FtsJ RNA 2'-O-methyltransferase 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ftsj1"
      },
      {
        "slug": "gria3",
        "symbol": "GRIA3",
        "name": "glutamate ionotropic receptor AMPA type subunit 3",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/gria3"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/grin1"
      },
      {
        "slug": "grin2b",
        "symbol": "GRIN2B",
        "name": "glutamate ionotropic receptor NMDA type subunit 2B",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/grin2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}