{
  "url": "https://dantelabs.com/ro/genes/kcnd3",
  "gene": {
    "slug": "kcnd3",
    "symbol": "KCND3",
    "name": "potassium voltage-gated channel subfamily D member 3",
    "hgnc": "HGNC:6239",
    "summary": null,
    "location": "1p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "Kv4.3",
      "KSHIVB"
    ],
    "previousSymbols": [
      "SCA22",
      "SCA19"
    ],
    "ensemblId": "ENSG00000171385",
    "entrezId": 3752,
    "omim": [
      "605411"
    ],
    "uniprot": [
      "Q9UK17"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 111770662,
      "end": 111989668,
      "strand": "-",
      "ensemblTranscript": "ENST00000302127.5",
      "refseqTranscript": "NM_001378969.1",
      "ensemblProtein": "ENSP00000306923.4",
      "refseqProtein": "NP_001365898.1",
      "exons": [
        {
          "start": 111770662,
          "end": 111776278
        },
        {
          "start": 111777026,
          "end": 111777273
        },
        {
          "start": 111778436,
          "end": 111778492
        },
        {
          "start": 111780225,
          "end": 111780314
        },
        {
          "start": 111780690,
          "end": 111780791
        },
        {
          "start": 111786944,
          "end": 111787106
        },
        {
          "start": 111981621,
          "end": 111982798
        },
        {
          "start": 111989505,
          "end": 111989668
        }
      ],
      "cds": {
        "start": 111776077,
        "end": 111982726
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 112313284,
      "end": 112531777,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 111380165,
      "end": 112380164,
      "genes": [
        {
          "symbol": "OVGP1",
          "ensemblId": "ENSG00000085465",
          "biotype": "protein_coding",
          "start": 111413379,
          "end": 111427735,
          "strand": "-",
          "slug": "ovgp1"
        },
        {
          "symbol": "WDR77",
          "ensemblId": "ENSG00000116455",
          "biotype": "protein_coding",
          "start": 111437222,
          "end": 111449297,
          "strand": "-",
          "slug": "wdr77"
        },
        {
          "symbol": "ATP5PB",
          "ensemblId": "ENSG00000116459",
          "biotype": "protein_coding",
          "start": 111448111,
          "end": 111468527,
          "strand": "+",
          "slug": "atp5pb"
        },
        {
          "symbol": "C1orf162",
          "ensemblId": "ENSG00000143110",
          "biotype": "protein_coding",
          "start": 111473754,
          "end": 111478513,
          "strand": "+",
          "slug": "c1orf162"
        },
        {
          "symbol": "TMIGD3",
          "ensemblId": "ENSG00000121933",
          "biotype": "protein_coding",
          "start": 111480668,
          "end": 111563962,
          "strand": "-",
          "slug": "tmigd3"
        },
        {
          "symbol": "ADORA3",
          "ensemblId": "ENSG00000282608",
          "biotype": "protein_coding",
          "start": 111499429,
          "end": 111503854,
          "strand": "-",
          "slug": "adora3"
        },
        {
          "symbol": "RAP1A",
          "ensemblId": "ENSG00000116473",
          "biotype": "protein_coding",
          "start": 111542009,
          "end": 111716691,
          "strand": "+",
          "slug": "rap1a"
        },
        {
          "symbol": "INKA2",
          "ensemblId": "ENSG00000197852",
          "biotype": "protein_coding",
          "start": 111680223,
          "end": 111755824,
          "strand": "-",
          "slug": "inka2"
        },
        {
          "symbol": "DDX20",
          "ensemblId": "ENSG00000064703",
          "biotype": "protein_coding",
          "start": 111754832,
          "end": 111775602,
          "strand": "+",
          "slug": "ddx20"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-dominant-cerebellar-ataxias",
        "name": "Ataxiile cerebeloase autozomal dominante (SCA și DRPLA)",
        "diseases": [
          {
            "mondoId": "MONDO:0020380",
            "name": "Ataxie cerebeloasă autozomal dominantă",
            "genes": 36,
            "inheritance": "autosomal-dominant",
            "description": "Un grup de ataxii cu transmitere dominantă, inclusiv SCA1, SCA2, SCA3 (boala Machado-Joseph), SCA6, SCA7, SCA17, SCA27B și DRPLA, cauzate de expansiuni de repetiții sau variante punctiforme în gene precum ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 și FGF14.",
            "management": "Consiliere genetică și testare presimptomatică pentru rude, kinetoterapie și managementul simptomelor; unele forme, cum este SCA27B, pot răspunde la un tratament medicamentos specific.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/autosomal-dominant-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "cogwheel-rigidity",
        "name": "Cogwheel rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cogwheel-rigidity"
      },
      {
        "slug": "complete-right-bundle-branch-block",
        "name": "Complete right bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "first-degree-atrioventricular-block",
        "name": "First degree atrioventricular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/first-degree-atrioventricular-block"
      },
      {
        "slug": "gaze-evoked-horizontal-nystagmus",
        "name": "Gaze-evoked horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/gaze-evoked-horizontal-nystagmus"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "impaired-smooth-pursuit",
        "name": "Impaired smooth pursuit",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-smooth-pursuit"
      },
      {
        "slug": "impaired-vibration-sensation-at-ankles",
        "name": "Impaired vibration sensation at ankles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-at-ankles"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intermittent-microsaccadic-pursuits",
        "name": "Intermittent microsaccadic pursuits",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/intermittent-microsaccadic-pursuits"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "paroxysmal-ventricular-tachycardia",
        "name": "Paroxysmal ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paroxysmal-ventricular-tachycardia"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "presyncope",
        "name": "Presyncope",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/presyncope"
      },
      {
        "slug": "progressive-cerebellar-ataxia",
        "name": "Progressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia"
      },
      {
        "slug": "prolonged-qt-interval",
        "name": "Prolonged QT interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-qt-interval"
      },
      {
        "slug": "saccadic-smooth-pursuit-interruptions",
        "name": "Saccadic smooth pursuit interruptions",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions"
      },
      {
        "slug": "sick-sinus-syndrome",
        "name": "Sick sinus syndrome",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sick-sinus-syndrome"
      },
      {
        "slug": "slurred-speech",
        "name": "Slurred speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/slurred-speech"
      },
      {
        "slug": "st-segment-elevation",
        "name": "ST segment elevation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/st-segment-elevation"
      },
      {
        "slug": "supraventricular-tachycardia",
        "name": "Supraventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-tachycardia"
      },
      {
        "slug": "trifascicular-block",
        "name": "Trifascicular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/trifascicular-block"
      },
      {
        "slug": "ventricular-arrhythmia",
        "name": "Ventricular arrhythmia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventricular-arrhythmia"
      },
      {
        "slug": "ventricular-fibrillation",
        "name": "Ventricular fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-fibrillation"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/afg3l2"
      },
      {
        "slug": "atn1",
        "symbol": "ATN1",
        "name": "atrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atn1"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atp1a3"
      },
      {
        "slug": "atxn1",
        "symbol": "ATXN1",
        "name": "ataxin 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atxn1"
      },
      {
        "slug": "atxn10",
        "symbol": "ATXN10",
        "name": "ataxin 10",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atxn10"
      },
      {
        "slug": "atxn2",
        "symbol": "ATXN2",
        "name": "ataxin 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atxn2"
      },
      {
        "slug": "atxn3",
        "symbol": "ATXN3",
        "name": "ataxin 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atxn3"
      },
      {
        "slug": "atxn7",
        "symbol": "ATXN7",
        "name": "ataxin 7",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atxn7"
      },
      {
        "slug": "bean1",
        "symbol": "BEAN1",
        "name": "brain expressed associated with NEDD4 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/bean1"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/cacna1a"
      },
      {
        "slug": "cacna1g",
        "symbol": "CACNA1G",
        "name": "calcium voltage-gated channel subunit alpha1 G",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/cacna1g"
      },
      {
        "slug": "camta1",
        "symbol": "CAMTA1",
        "name": "calmodulin binding transcription activator 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/camta1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}