{
  "url": "https://dantelabs.com/el/genes/slc20a2",
  "gene": {
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    "symbol": "SLC20A2",
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    },
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      "strand": "-"
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        {
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        {
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        {
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        {
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        {
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          "strand": "+",
          "slug": "smim19"
        },
        {
          "symbol": "CHRNB3",
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        {
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        {
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        {
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "basal-ganglia-calcification",
        "name": "Ασβεστοποίηση των βασικών γαγγλίων",
        "diseases": [
          {
            "mondoId": "MONDO:0024538",
            "name": "Ασβεστοποίηση βασικών γαγγλίων, ιδιοπαθής, 1",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": null,
            "management": null,
            "evidence": {
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                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
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              "inheritance": [
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            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0008947",
            "name": "Πρωτοπαθής οικογενειακή εγκεφαλική ασβεστίωση (Όλοι οι τύποι)",
            "genes": 7,
            "inheritance": null,
            "description": "Γενικός όρος που καλύπτει την πρωτοπαθή οικογενειακή εγκεφαλική ασβεστίωση (αμφοτερόπλευρη στριοπαλλιδοδοντική ασβεστίωση), συμπεριλαμβανομένων των επικρατών μορφών SLC20A2, PDGFRB, PDGFB και XPR1, καθώς και των υπολειπόμενων μορφών MYORG και JAM2.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/basal-ganglia-calcification"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-metabolite-concentration",
        "name": "Abnormal circulating metabolite concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/abnormal-circulating-metabolite-concentration"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "bilateral-basal-ganglia-lesions",
        "name": "Bilateral basal ganglia lesions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-basal-ganglia-lesions"
      },
      {
        "slug": "calcification-of-the-small-brain-vessels",
        "name": "Calcification of the small brain vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/calcification-of-the-small-brain-vessels"
      },
      {
        "slug": "unusual-cns-infection",
        "name": "Central nervous system infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/unusual-cns-infection"
      },
      {
        "slug": "cerebellar-calcifications",
        "name": "Cerebellar calcifications",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-calcifications"
      },
      {
        "slug": "cerebellar-dentate-nucleus-calcification",
        "name": "Cerebellar dentate nucleus calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-dentate-nucleus-calcification"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "impotence",
        "name": "Difficulty getting a full erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impotence"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "mask-like-facies",
        "name": "Expressionless face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mask-like-facies"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "micrographia",
        "name": "Micrographia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/micrographia"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "personality-changes",
        "name": "Personality changes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/personality-changes"
      },
      {
        "slug": "diminished-ability-to-concentrate",
        "name": "Poor concentration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diminished-ability-to-concentrate"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "slurred-speech",
        "name": "Slurred speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/slurred-speech"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "limb-dysmetria",
        "name": "Uncoordinated limb movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/limb-dysmetria"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "urinary-urgency",
        "name": "Urinary urgency",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-urgency"
      },
      {
        "slug": "progressive-neurologic-deterioration",
        "name": "Worsening neurological symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration"
      }
    ],
    "related": [
      {
        "slug": "jam2",
        "symbol": "JAM2",
        "name": "junctional adhesion molecule 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/jam2"
      },
      {
        "slug": "myorg",
        "symbol": "MYORG",
        "name": "myogenesis regulating glycosidase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/myorg"
      },
      {
        "slug": "naa60",
        "symbol": "NAA60",
        "name": "N-alpha-acetyltransferase 60, NatF catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/naa60"
      },
      {
        "slug": "pdgfb",
        "symbol": "PDGFB",
        "name": "platelet derived growth factor subunit B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pdgfb"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "name": "platelet derived growth factor receptor beta",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pdgfrb"
      },
      {
        "slug": "xpr1",
        "symbol": "XPR1",
        "name": "xenotropic and polytropic retrovirus receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/xpr1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}