{
  "url": "https://dantelabs.com/tr/genes/gabrb3",
  "gene": {
    "slug": "gabrb3",
    "symbol": "GABRB3",
    "name": "gamma-aminobutyric acid type A receptor subunit beta3",
    "hgnc": "HGNC:4083",
    "summary": null,
    "location": "15q12",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166206",
    "entrezId": 2562,
    "omim": [
      "137192"
    ],
    "uniprot": [
      "P28472"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 26543552,
      "end": 26773066,
      "strand": "-",
      "ensemblTranscript": "ENST00000311550.10",
      "refseqTranscript": "NM_000814.6",
      "ensemblProtein": "ENSP00000308725.5",
      "refseqProtein": "NP_000805.1",
      "exons": [
        {
          "start": 26543552,
          "end": 26548134
        },
        {
          "start": 26560932,
          "end": 26561176
        },
        {
          "start": 26567581,
          "end": 26567733
        },
        {
          "start": 26580319,
          "end": 26580456
        },
        {
          "start": 26583332,
          "end": 26583414
        },
        {
          "start": 26621314,
          "end": 26621534
        },
        {
          "start": 26772402,
          "end": 26772469
        },
        {
          "start": 26772681,
          "end": 26772772
        },
        {
          "start": 26772883,
          "end": 26773066
        }
      ],
      "cds": {
        "start": 26547793,
        "end": 26772962
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 26788693,
      "end": 27184686,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 26158309,
      "end": 27158308,
      "genes": [
        {
          "symbol": "GABRA5",
          "ensemblId": "ENSG00000186297",
          "biotype": "protein_coding",
          "start": 26866709,
          "end": 26949208,
          "strand": "+",
          "slug": "gabra5"
        },
        {
          "symbol": "GABRG3",
          "ensemblId": "ENSG00000182256",
          "biotype": "protein_coding",
          "start": 26971060,
          "end": 27541984,
          "strand": "+",
          "slug": "gabrg3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsi (Tam Panel)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsi",
            "genes": 171,
            "inheritance": null,
            "description": "Nöronal deşarjın anormal şekilde artmasıyla ortaya çıkan, geçici duyusal veya motor nörolojik işlev bozukluğu ya da psişik işlev bozukluğuyla seyreden bir beyin hastalığıdır. Bu nöbetler bilinç kaybı veya konvülsiyonlarla birlikte olabilir ya da olmayabilir.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-brainstem-morphology",
        "name": "Abnormal shape of brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology"
      },
      {
        "slug": "abnormal-social-behavior",
        "name": "Abnormal social behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-social-behavior"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "atypical-absence-seizure",
        "name": "Atypical absence seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-absence-seizure"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "eeg-with-focal-sharp-slow-waves",
        "name": "EEG with focal sharp slow waves",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-with-focal-sharp-slow-waves"
      },
      {
        "slug": "eeg-with-spike-wave-complexes-2-5-3-5-hz",
        "name": "EEG with spike-wave complexes (2.5-3.5 Hz)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-with-spike-wave-complexes-2-5-3-5-hz"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "falls",
        "name": "Falls",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/falls"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "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": "frequent",
        "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": "jerky-head-movements",
        "name": "Head jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/jerky-head-movements"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "impaired-visuospatial-constructive-cognition",
        "name": "Impaired visuospatial constructive cognition",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-visuospatial-constructive-cognition"
      },
      {
        "slug": "impulsivity",
        "name": "Impulsivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "limb-myoclonus",
        "name": "Limb myoclonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/limb-myoclonus"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "low-self-esteem",
        "name": "Low self-esteem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-self-esteem"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "myoclonic-absence-seizure",
        "name": "Myoclonic absence seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonic-absence-seizure"
      },
      {
        "slug": "myoclonic-seizure",
        "name": "Myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "personality-disorder",
        "name": "Personality disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/personality-disorder"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "punding",
        "name": "Punding",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/punding"
      },
      {
        "slug": "hyperventilation",
        "name": "Rapid breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperventilation"
      },
      {
        "slug": "dyslexia",
        "name": "Reading disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyslexia"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "atonic-seizure",
        "name": "Sudden loss of muscle tone",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atonic-seizure"
      },
      {
        "slug": "typical-absence-seizure",
        "name": "Typical absence seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/typical-absence-seizure"
      },
      {
        "slug": "uncontrolled-eye-movements",
        "name": "Uncontrolled eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uncontrolled-eye-movements"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}