{
  "url": "https://dantelabs.com/fi/genes/atn1",
  "gene": {
    "slug": "atn1",
    "symbol": "ATN1",
    "name": "atrophin 1",
    "hgnc": "HGNC:3033",
    "summary": null,
    "location": "12p13.31",
    "locusType": "gene with protein product",
    "aliases": [
      "B37"
    ],
    "previousSymbols": [
      "D12S755E",
      "DRPLA"
    ],
    "ensemblId": "ENSG00000111676",
    "entrezId": 1822,
    "omim": [
      "607462"
    ],
    "uniprot": [
      "P54259"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
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      "end": 6942321,
      "strand": "+",
      "ensemblTranscript": "ENST00000396684.3",
      "refseqTranscript": "NM_001940.4",
      "ensemblProtein": "ENSP00000379915.2",
      "refseqProtein": "NP_001931.2",
      "exons": [
        {
          "start": 6927959,
          "end": 6928384
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        {
          "start": 6933840,
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        }
      ],
      "cds": {
        "start": 6934002,
        "end": 6941780
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
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      "end": 7051484,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 7435139,
      "genes": [
        {
          "symbol": "CD27",
          "ensemblId": "ENSG00000139193",
          "biotype": "protein_coding",
          "start": 6444933,
          "end": 6451718,
          "strand": "+",
          "slug": "cd27"
        },
        {
          "symbol": "TAPBPL",
          "ensemblId": "ENSG00000139192",
          "biotype": "protein_coding",
          "start": 6451690,
          "end": 6466517,
          "strand": "+",
          "slug": "tapbpl"
        },
        {
          "symbol": "VAMP1",
          "ensemblId": "ENSG00000139190",
          "biotype": "protein_coding",
          "start": 6462237,
          "end": 6470948,
          "strand": "-",
          "slug": "vamp1"
        },
        {
          "symbol": "MRPL51",
          "ensemblId": "ENSG00000111639",
          "biotype": "protein_coding",
          "start": 6490204,
          "end": 6493856,
          "strand": "-",
          "slug": "mrpl51"
        },
        {
          "symbol": "NCAPD2",
          "ensemblId": "ENSG00000010292",
          "biotype": "protein_coding",
          "start": 6493356,
          "end": 6531970,
          "strand": "+",
          "slug": "ncapd2"
        },
        {
          "symbol": "GAPDH",
          "ensemblId": "ENSG00000111640",
          "biotype": "protein_coding",
          "start": 6534012,
          "end": 6538930,
          "strand": "+",
          "slug": "gapdh"
        },
        {
          "symbol": "IFFO1",
          "ensemblId": "ENSG00000010295",
          "biotype": "protein_coding",
          "start": 6538961,
          "end": 6556102,
          "strand": "-",
          "slug": "iffo1"
        },
        {
          "symbol": "NOP2",
          "ensemblId": "ENSG00000111641",
          "biotype": "protein_coding",
          "start": 6556863,
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          "strand": "-",
          "slug": "nop2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285238",
          "biotype": "protein_coding",
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          "end": 6607367,
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        },
        {
          "symbol": "CHD4",
          "ensemblId": "ENSG00000111642",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "chd4"
        },
        {
          "symbol": "LPAR5",
          "ensemblId": "ENSG00000184574",
          "biotype": "protein_coding",
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          "slug": "lpar5"
        },
        {
          "symbol": "ACRBP",
          "ensemblId": "ENSG00000111644",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "acrbp"
        },
        {
          "symbol": "ING4",
          "ensemblId": "ENSG00000111653",
          "biotype": "protein_coding",
          "start": 6650282,
          "end": 6663180,
          "strand": "-",
          "slug": "ing4"
        },
        {
          "symbol": "ZNF384",
          "ensemblId": "ENSG00000126746",
          "biotype": "protein_coding",
          "start": 6665037,
          "end": 6689572,
          "strand": "-",
          "slug": "znf384"
        },
        {
          "symbol": "PIANP",
          "ensemblId": "ENSG00000139200",
          "biotype": "protein_coding",
          "start": 6693791,
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          "strand": "-",
          "slug": "pianp"
        },
        {
          "symbol": "COPS7A",
          "ensemblId": "ENSG00000111652",
          "biotype": "protein_coding",
          "start": 6724014,
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          "strand": "+",
          "slug": "cops7a"
        },
        {
          "symbol": "MLF2",
          "ensemblId": "ENSG00000089693",
          "biotype": "protein_coding",
          "start": 6747986,
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          "strand": "-",
          "slug": "mlf2"
        },
        {
          "symbol": "PTMS",
          "ensemblId": "ENSG00000159335",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "LAG3",
          "ensemblId": "ENSG00000089692",
          "biotype": "protein_coding",
          "start": 6772360,
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          "strand": "+",
          "slug": "lag3"
        },
        {
          "symbol": "CD4",
          "ensemblId": "ENSG00000010610",
          "biotype": "protein_coding",
          "start": 6786858,
          "end": 6820807,
          "strand": "+",
          "slug": "cd4"
        },
        {
          "symbol": "GPR162",
          "ensemblId": "ENSG00000250510",
          "biotype": "protein_coding",
          "start": 6821624,
          "end": 6829972,
          "strand": "+",
          "slug": "gpr162"
        },
        {
          "symbol": "P3H3",
          "ensemblId": "ENSG00000110811",
          "biotype": "protein_coding",
          "start": 6828220,
          "end": 6839867,
          "strand": "+",
          "slug": "p3h3"
        },
        {
          "symbol": "GNB3",
          "ensemblId": "ENSG00000111664",
          "biotype": "protein_coding",
          "start": 6839954,
          "end": 6847393,
          "strand": "+",
          "slug": "gnb3"
        },
        {
          "symbol": "CDCA3",
          "ensemblId": "ENSG00000111665",
          "biotype": "protein_coding",
          "start": 6844723,
          "end": 6852353,
          "strand": "-",
          "slug": "cdca3"
        },
        {
          "symbol": "USP5",
          "ensemblId": "ENSG00000111667",
          "biotype": "protein_coding",
          "start": 6852098,
          "end": 6866632,
          "strand": "+",
          "slug": "usp5"
        },
        {
          "symbol": "TPI1",
          "ensemblId": "ENSG00000111669",
          "biotype": "protein_coding",
          "start": 6867119,
          "end": 6878513,
          "strand": "+",
          "slug": "tpi1"
        },
        {
          "symbol": "SPSB2",
          "ensemblId": "ENSG00000111671",
          "biotype": "protein_coding",
          "start": 6870934,
          "end": 6889358,
          "strand": "-",
          "slug": "spsb2"
        },
        {
          "symbol": "LRRC23",
          "ensemblId": "ENSG00000010626",
          "biotype": "protein_coding",
          "start": 6873455,
          "end": 6914243,
          "strand": "+",
          "slug": "lrrc23"
        },
        {
          "symbol": "ENO2",
          "ensemblId": "ENSG00000111674",
          "biotype": "protein_coding",
          "start": 6913745,
          "end": 6923970,
          "strand": "+",
          "slug": "eno2"
        },
        {
          "symbol": "C12orf57",
          "ensemblId": "ENSG00000111678",
          "biotype": "protein_coding",
          "start": 6942919,
          "end": 6946009,
          "strand": "+",
          "slug": "c12orf57"
        },
        {
          "symbol": "RNU7-1",
          "ensemblId": "ENSG00000238923",
          "biotype": "other",
          "start": 6943816,
          "end": 6943878,
          "strand": "+",
          "slug": "rnu7-1"
        },
        {
          "symbol": "PTPN6",
          "ensemblId": "ENSG00000111679",
          "biotype": "protein_coding",
          "start": 6946417,
          "end": 6961316,
          "strand": "+",
          "slug": "ptpn6"
        },
        {
          "symbol": "PHB2",
          "ensemblId": "ENSG00000215021",
          "biotype": "protein_coding",
          "start": 6965327,
          "end": 6970841,
          "strand": "-",
          "slug": "phb2"
        },
        {
          "symbol": "EMG1",
          "ensemblId": "ENSG00000126749",
          "biotype": "protein_coding",
          "start": 6970765,
          "end": 6979939,
          "strand": "+",
          "slug": "emg1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290146",
          "biotype": "protein_coding",
          "start": 6970921,
          "end": 6997428,
          "strand": "+"
        },
        {
          "symbol": "LPCAT3",
          "ensemblId": "ENSG00000111684",
          "biotype": "protein_coding",
          "start": 6972027,
          "end": 7018779,
          "strand": "-",
          "slug": "lpcat3"
        },
        {
          "symbol": "C1S",
          "ensemblId": "ENSG00000182326",
          "biotype": "protein_coding",
          "start": 6988259,
          "end": 7071281,
          "strand": "+",
          "slug": "c1s"
        },
        {
          "symbol": "C1R",
          "ensemblId": "ENSG00000159403",
          "biotype": "protein_coding",
          "start": 7080213,
          "end": 7092873,
          "strand": "-",
          "slug": "c1r"
        },
        {
          "symbol": "C1RL",
          "ensemblId": "ENSG00000139178",
          "biotype": "protein_coding",
          "start": 7089587,
          "end": 7109245,
          "strand": "-",
          "slug": "c1rl"
        },
        {
          "symbol": "RBP5",
          "ensemblId": "ENSG00000139194",
          "biotype": "protein_coding",
          "start": 7115736,
          "end": 7128891,
          "strand": "-",
          "slug": "rbp5"
        },
        {
          "symbol": "CLSTN3",
          "ensemblId": "ENSG00000139182",
          "biotype": "protein_coding",
          "start": 7128077,
          "end": 7158945,
          "strand": "+",
          "slug": "clstn3"
        },
        {
          "symbol": "PEX5",
          "ensemblId": "ENSG00000139197",
          "biotype": "protein_coding",
          "start": 7188653,
          "end": 7218574,
          "strand": "+",
          "slug": "pex5"
        },
        {
          "symbol": "ACSM4",
          "ensemblId": "ENSG00000215009",
          "biotype": "protein_coding",
          "start": 7304072,
          "end": 7328719,
          "strand": "+",
          "slug": "acsm4"
        },
        {
          "symbol": "CD163L1",
          "ensemblId": "ENSG00000177675",
          "biotype": "protein_coding",
          "start": 7346685,
          "end": 7479897,
          "strand": "-",
          "slug": "cd163l1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-dominant-cerebellar-ataxias",
        "name": "Autosomaalisesti dominantit pikkuaivoataksiat (SCA:t ja DRPLA)",
        "diseases": [
          {
            "mondoId": "MONDO:0020380",
            "name": "Autosomaalisesti dominantti pikkuaivoataksia",
            "genes": 36,
            "inheritance": "autosomal-dominant",
            "description": "Ryhmä dominantisti periytyviä ataksioita, joihin kuuluvat SCA1, SCA2, SCA3 (Machado-Joseph-tauti), SCA6, SCA7, SCA17, SCA27B ja DRPLA. Ne aiheutuvat toistojen laajenemisesta tai pistemuutoksista geeneissä, kuten ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 ja FGF14.",
            "management": "Geneettinen neuvonta ja oireettomien sukulaisten ennakkotestaus, fysioterapia sekä oireiden hoito. Joidenkin muotojen, kuten SCA27B:n, hoitoon voi vastata tietty lääkitys.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/autosomal-dominant-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "action-tremor",
        "name": "Action tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/action-tremor"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "anteriorly-placed-anus",
        "name": "Anteriorly placed anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/anteriorly-placed-anus"
      },
      {
        "slug": "aplasia-of-the-falx-cerebri",
        "name": "Aplasia of the falx cerebri",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-of-the-falx-cerebri"
      },
      {
        "slug": "appendicular-spasticity",
        "name": "Appendicular spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/appendicular-spasticity"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atrophy-of-the-dentate-nucleus",
        "name": "Atrophy of the dentate nucleus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atrophy-of-the-dentate-nucleus"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "slug": "brain-imaging-abnormality",
        "name": "Brain imaging abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/brain-imaging-abnormality"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "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": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "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": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "dyssynergia",
        "name": "Dyssynergia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyssynergia"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "blepharospasm",
        "name": "Eyelid spasm",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharospasm"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "impaired-proprioception",
        "name": "Impaired proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-proprioception"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "increased-nuchal-translucency",
        "name": "Increased nuchal translucency",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-nuchal-translucency"
      },
      {
        "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": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "inverted-nipples",
        "name": "Inverted nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inverted-nipples"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "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": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "low-hanging-columella",
        "name": "Low hanging columella",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/low-hanging-columella"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "open-mouth",
        "name": "Open mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/open-mouth"
      },
      {
        "slug": "oromandibular-dystonia",
        "name": "Oromandibular dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oromandibular-dystonia"
      },
      {
        "slug": "overhanging-nasal-tip",
        "name": "Overhanging nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/overhanging-nasal-tip"
      },
      {
        "slug": "overlapping-fingers",
        "name": "Overlapping fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overlapping-fingers"
      },
      {
        "slug": "overlapping-toe",
        "name": "Overlapping toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overlapping-toe"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "persistent-left-superior-vena-cava",
        "name": "Persistent left superior vena cava",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/persistent-left-superior-vena-cava"
      },
      {
        "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": "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": "prominent-fingertip-pads",
        "name": "Prominent fingertip pads",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-fingertip-pads"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "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": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      }
    ],
    "related": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/afg3l2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp1a3"
      },
      {
        "slug": "atxn1",
        "symbol": "ATXN1",
        "name": "ataxin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atxn1"
      },
      {
        "slug": "atxn10",
        "symbol": "ATXN10",
        "name": "ataxin 10",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atxn10"
      },
      {
        "slug": "atxn2",
        "symbol": "ATXN2",
        "name": "ataxin 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atxn2"
      },
      {
        "slug": "atxn3",
        "symbol": "ATXN3",
        "name": "ataxin 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atxn3"
      },
      {
        "slug": "atxn7",
        "symbol": "ATXN7",
        "name": "ataxin 7",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atxn7"
      },
      {
        "slug": "bean1",
        "symbol": "BEAN1",
        "name": "brain expressed associated with NEDD4 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bean1"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cacna1a"
      },
      {
        "slug": "cacna1g",
        "symbol": "CACNA1G",
        "name": "calcium voltage-gated channel subunit alpha1 G",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cacna1g"
      },
      {
        "slug": "camta1",
        "symbol": "CAMTA1",
        "name": "calmodulin binding transcription activator 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/camta1"
      },
      {
        "slug": "dab1",
        "symbol": "DAB1",
        "name": "DAB adaptor protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dab1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}