{
  "url": "https://dantelabs.com/hu/genes/gabrg2",
  "gene": {
    "slug": "gabrg2",
    "symbol": "GABRG2",
    "name": "gamma-aminobutyric acid type A receptor subunit gamma2",
    "hgnc": "HGNC:4087",
    "summary": null,
    "location": "5q34",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000113327",
    "entrezId": 2566,
    "omim": [
      "137164"
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    "uniprot": [
      "P18507"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 162067773,
      "end": 162155526,
      "strand": "+",
      "ensemblTranscript": "ENST00000639213.2",
      "refseqTranscript": "NM_198904.4",
      "ensemblProtein": "ENSP00000491909.2",
      "refseqProtein": "NP_944494.1",
      "exons": [
        {
          "start": 162067773,
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        },
        {
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        }
      ],
      "cds": {
        "start": 162068000,
        "end": 162153368
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 161494546,
      "end": 161582542,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 161611650,
      "end": 162611649,
      "genes": [
        {
          "symbol": "GABRA6",
          "ensemblId": "ENSG00000145863",
          "biotype": "protein_coding",
          "start": 161547063,
          "end": 161702593,
          "strand": "+",
          "slug": "gabra6"
        },
        {
          "symbol": "GABRA1",
          "ensemblId": "ENSG00000022355",
          "biotype": "protein_coding",
          "start": 161847063,
          "end": 161899981,
          "strand": "+",
          "slug": "gabra1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsy (Full Panel)",
        "diseases": [
          {
            "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",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-corpus-callosum-morphology",
        "name": "Abnormal corpus callosum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-corpus-callosum-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-involuntary-eye-movements",
        "name": "Abnormal involuntary eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-involuntary-eye-movements"
      },
      {
        "slug": "abnormal-myelination",
        "name": "Abnormal myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-myelination"
      },
      {
        "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": "abnormality-of-coordination",
        "name": "Abnormality of coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coordination"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "action-tremor",
        "name": "Action tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/action-tremor"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "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": "atypical-absence-status-epilepticus",
        "name": "Atypical absence status epilepticus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-absence-status-epilepticus"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-focal-onset",
        "name": "Bilateral tonic-clonic seizure with focal onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "cogwheel-rigidity",
        "name": "Cogwheel rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cogwheel-rigidity"
      },
      {
        "slug": "complex-febrile-seizure",
        "name": "Complex febrile seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/complex-febrile-seizure"
      },
      {
        "slug": "cortical-dysplasia",
        "name": "Cortical dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cortical-dysplasia"
      },
      {
        "slug": "cyanotic-episode",
        "name": "Cyanotic episode",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cyanotic-episode"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "dysesthesia",
        "name": "Dysesthesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysesthesia"
      },
      {
        "slug": "dysgenesis-of-the-hippocampus",
        "name": "Dysgenesis of the hippocampus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysgenesis-of-the-hippocampus"
      },
      {
        "slug": "eeg-with-centrotemporal-focal-spike-waves",
        "name": "EEG with centrotemporal focal spike waves",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-with-centrotemporal-focal-spike-waves"
      },
      {
        "slug": "eeg-with-focal-epileptiform-discharges",
        "name": "EEG with focal epileptiform discharges",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-with-focal-epileptiform-discharges"
      },
      {
        "slug": "eeg-with-generalized-epileptiform-discharges",
        "name": "EEG with generalized epileptiform discharges",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-with-generalized-epileptiform-discharges"
      },
      {
        "slug": "eeg-with-irregular-generalized-spike-and-wave-complexes",
        "name": "EEG with irregular generalized spike and wave complexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/eeg-with-irregular-generalized-spike-and-wave-complexes"
      },
      {
        "slug": "eeg-with-multifocal-slow-activity",
        "name": "EEG with multifocal slow activity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-multifocal-slow-activity"
      },
      {
        "slug": "eeg-with-polyspike-wave-complexes",
        "name": "EEG with polyspike wave complexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/eeg-with-polyspike-wave-complexes"
      },
      {
        "slug": "eeg-with-spike-wave-complexes",
        "name": "EEG with spike-wave complexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-with-spike-wave-complexes"
      },
      {
        "slug": "eeg-with-spike-wave-complexes-3-5-hz",
        "name": "EEG with spike-wave complexes (>3.5 Hz)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/eeg-with-spike-wave-complexes-3-5-hz"
      },
      {
        "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": "epilepsia-partialis-continua",
        "name": "Epilepsia partialis continua",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epilepsia-partialis-continua"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "facial-tics",
        "name": "Facial tics",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-tics"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "focal-aware-seizure",
        "name": "Focal aware seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-aware-seizure"
      },
      {
        "slug": "focal-hemiclonic-seizure",
        "name": "Focal hemiclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-hemiclonic-seizure"
      },
      {
        "slug": "focal-hemifacial-clonic-seizure",
        "name": "Focal hemifacial clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-hemifacial-clonic-seizure"
      },
      {
        "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": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "slug": "generalized-cerebral-atrophy-hypoplasia",
        "name": "Generalized cerebral degeneration/underdevelopment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-cerebral-atrophy-hypoplasia"
      },
      {
        "slug": "generalized-clonic-seizure",
        "name": "Generalized clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-clonic-seizure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "generalized-tonic-seizure",
        "name": "Generalized tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/generalized-tonic-seizure"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-onset-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": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "borderline-intellectual-disability",
        "name": "Intellectual disability, borderline",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/borderline-intellectual-disability"
      },
      {
        "slug": "interictal-epileptiform-activity",
        "name": "Interictal epileptiform activity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/interictal-epileptiform-activity"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "laryngospasm",
        "name": "Laryngospasm",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/laryngospasm"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "limb-myoclonus",
        "name": "Limb myoclonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/limb-myoclonus"
      },
      {
        "slug": "limited-knee-extension",
        "name": "Limited knee straightening",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limited-knee-extension"
      },
      {
        "slug": "limited-neck-range-of-motion",
        "name": "Limited neck range of motion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-neck-range-of-motion"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "multifocal-epileptiform-discharges",
        "name": "Multifocal epileptiform discharges",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multifocal-epileptiform-discharges"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "obsessive-compulsive-trait",
        "name": "Obsessive-compulsive trait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obsessive-compulsive-trait"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "sleep-apnea",
        "name": "Pauses in breathing while sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-apnea"
      },
      {
        "slug": "pes-valgus",
        "name": "Pes valgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-valgus"
      },
      {
        "slug": "photosensitive-myoclonic-seizure",
        "name": "Photosensitive myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photosensitive-myoclonic-seizure"
      },
      {
        "slug": "photosensitive-tonic-clonic-seizure",
        "name": "Photosensitive tonic-clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photosensitive-tonic-clonic-seizure"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "poor-fine-motor-coordination",
        "name": "Poor fine motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-fine-motor-coordination"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "progressive-gait-ataxia",
        "name": "Progressive gait ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-gait-ataxia"
      },
      {
        "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": "reduced-cerebral-white-matter-volume",
        "name": "Reduced cerebral white matter volume",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-cerebral-white-matter-volume"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-attention-span",
        "name": "Short attention span",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-attention-span"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "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": "speech-articulation-difficulties",
        "name": "Speech articulation difficulties",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/speech-articulation-difficulties"
      },
      {
        "slug": "status-epilepticus-without-prominent-motor-symptoms",
        "name": "Status epilepticus without prominent motor symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/status-epilepticus-without-prominent-motor-symptoms"
      },
      {
        "slug": "atonic-seizure",
        "name": "Sudden loss of muscle tone",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atonic-seizure"
      },
      {
        "slug": "talipes-valgus",
        "name": "Talipes valgus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/talipes-valgus"
      },
      {
        "slug": "tibial-torsion",
        "name": "Tibial torsion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tibial-torsion"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "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"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}