{
  "url": "https://dantelabs.com/lt/genes/atxn10",
  "gene": {
    "slug": "atxn10",
    "symbol": "ATXN10",
    "name": "ataxin 10",
    "hgnc": "HGNC:10549",
    "summary": null,
    "location": "22q13.31",
    "locusType": "gene with protein product",
    "aliases": [
      "E46L",
      "FLJ37990",
      "ATX10"
    ],
    "previousSymbols": [
      "SCA10"
    ],
    "ensemblId": "ENSG00000130638",
    "entrezId": 25814,
    "omim": [
      "611150"
    ],
    "uniprot": [
      "Q9UBB4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 45671834,
      "end": 45845307,
      "strand": "+",
      "ensemblTranscript": "ENST00000252934.10",
      "refseqTranscript": "NM_013236.4",
      "ensemblProtein": "ENSP00000252934.4",
      "refseqProtein": "NP_037368.1",
      "exons": [
        {
          "start": 45671834,
          "end": 45672179
        },
        {
          "start": 45689712,
          "end": 45689903
        },
        {
          "start": 45692996,
          "end": 45693078
        },
        {
          "start": 45700282,
          "end": 45700378
        },
        {
          "start": 45702689,
          "end": 45702847
        },
        {
          "start": 45718413,
          "end": 45718493
        },
        {
          "start": 45729425,
          "end": 45729590
        },
        {
          "start": 45738731,
          "end": 45738839
        },
        {
          "start": 45740369,
          "end": 45740538
        },
        {
          "start": 45806959,
          "end": 45807022
        },
        {
          "start": 45842991,
          "end": 45843178
        },
        {
          "start": 45843669,
          "end": 45845307
        }
      ],
      "cds": {
        "start": 45672064,
        "end": 45843671
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 46067678,
      "end": 46241187,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 45258571,
      "end": 46258570,
      "genes": [
        {
          "symbol": "UPK3A",
          "ensemblId": "ENSG00000100373",
          "biotype": "protein_coding",
          "start": 45284924,
          "end": 45295874,
          "strand": "+",
          "slug": "upk3a"
        },
        {
          "symbol": "SIRAL2",
          "ensemblId": "ENSG00000100376",
          "biotype": "protein_coding",
          "start": 45308968,
          "end": 45342828,
          "strand": "+",
          "slug": "siral2"
        },
        {
          "symbol": "SMC1B",
          "ensemblId": "ENSG00000077935",
          "biotype": "protein_coding",
          "start": 45344063,
          "end": 45413619,
          "strand": "-",
          "slug": "smc1b"
        },
        {
          "symbol": "RIBC2",
          "ensemblId": "ENSG00000128408",
          "biotype": "protein_coding",
          "start": 45413680,
          "end": 45437426,
          "strand": "+",
          "slug": "ribc2"
        },
        {
          "symbol": "FBLN1",
          "ensemblId": "ENSG00000077942",
          "biotype": "protein_coding",
          "start": 45502238,
          "end": 45601981,
          "strand": "+",
          "slug": "fbln1"
        },
        {
          "symbol": "WNT7B",
          "ensemblId": "ENSG00000188064",
          "biotype": "protein_coding",
          "start": 45920366,
          "end": 45977260,
          "strand": "-",
          "slug": "wnt7b"
        },
        {
          "symbol": "PPARA",
          "ensemblId": "ENSG00000186951",
          "biotype": "protein_coding",
          "start": 46149924,
          "end": 46243755,
          "strand": "+",
          "slug": "ppara"
        },
        {
          "symbol": "CDPF1",
          "ensemblId": "ENSG00000205643",
          "biotype": "protein_coding",
          "start": 46241405,
          "end": 46250897,
          "strand": "-",
          "slug": "cdpf1"
        },
        {
          "symbol": "PKDREJ",
          "ensemblId": "ENSG00000130943",
          "biotype": "protein_coding",
          "start": 46255663,
          "end": 46263343,
          "strand": "-",
          "slug": "pkdrej"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-dominant-cerebellar-ataxias",
        "name": "Autosominės dominantinės smegenėlių ataksijos (SCA ir DRPLA)",
        "diseases": [
          {
            "mondoId": "MONDO:0020380",
            "name": "Autosominė dominantinė smegenėlių ataksija",
            "genes": 36,
            "inheritance": "autosomal-dominant",
            "description": "Dominuojančiai paveldimų ataksijų grupė, įskaitant SCA1, SCA2, SCA3 (Machado-Joseph liga), SCA6, SCA7, SCA17, SCA27B ir DRPLA, kurias sukelia pasikartojančių sekų išplitimai arba taškiniai variantai tokiuose genuose kaip ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 ir FGF14.",
            "management": "Genetinė konsultacija ir presimptominis tyrimas giminaičiams, fizioterapija bei simptomų valdymas; kai kurioms formoms, pavyzdžiui SCA27B, gali padėti specifinis gydymas vaistais.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/autosomal-dominant-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormal-pyramidal-tract-morphology",
        "name": "Abnormal pyramidal tract morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-tract-morphology"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "eeg-with-generalized-epileptiform-discharges",
        "name": "EEG with generalized epileptiform discharges",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-generalized-epileptiform-discharges"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "scanning-speech",
        "name": "Explosive speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scanning-speech"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "focal-motor-seizure",
        "name": "Focal motor seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-motor-seizure"
      },
      {
        "slug": "gaze-evoked-nystagmus",
        "name": "Gaze-evoked nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "impaired-smooth-pursuit",
        "name": "Impaired smooth pursuit",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-smooth-pursuit"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "kinetic-tremor",
        "name": "Kinetic tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kinetic-tremor"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "limb-fasciculations",
        "name": "Limb fasciculations",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-fasciculations"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-cerebellar-ataxia",
        "name": "Progressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "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"
      }
    ],
    "related": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/afg3l2"
      },
      {
        "slug": "atn1",
        "symbol": "ATN1",
        "name": "atrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atn1"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp1a3"
      },
      {
        "slug": "atxn1",
        "symbol": "ATXN1",
        "name": "ataxin 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atxn1"
      },
      {
        "slug": "atxn2",
        "symbol": "ATXN2",
        "name": "ataxin 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atxn2"
      },
      {
        "slug": "atxn3",
        "symbol": "ATXN3",
        "name": "ataxin 3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atxn3"
      },
      {
        "slug": "atxn7",
        "symbol": "ATXN7",
        "name": "ataxin 7",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atxn7"
      },
      {
        "slug": "bean1",
        "symbol": "BEAN1",
        "name": "brain expressed associated with NEDD4 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/bean1"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cacna1a"
      },
      {
        "slug": "cacna1g",
        "symbol": "CACNA1G",
        "name": "calcium voltage-gated channel subunit alpha1 G",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cacna1g"
      },
      {
        "slug": "camta1",
        "symbol": "CAMTA1",
        "name": "calmodulin binding transcription activator 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/camta1"
      },
      {
        "slug": "dab1",
        "symbol": "DAB1",
        "name": "DAB adaptor protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dab1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}