{
  "url": "https://dantelabs.com/it/genes/setx",
  "gene": {
    "slug": "setx",
    "symbol": "SETX",
    "name": "senataxin",
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      "build": "GRCh37",
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      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "MED27",
          "ensemblId": "ENSG00000160563",
          "biotype": "protein_coding",
          "start": 131842105,
          "end": 132079896,
          "strand": "-",
          "slug": "med27"
        },
        {
          "symbol": "NTNG2",
          "ensemblId": "ENSG00000196358",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ntng2"
        },
        {
          "symbol": "TTF1",
          "ensemblId": "ENSG00000125482",
          "biotype": "protein_coding",
          "start": 132375497,
          "end": 132406853,
          "strand": "-",
          "slug": "ttf1"
        },
        {
          "symbol": "CFAP77",
          "ensemblId": "ENSG00000188523",
          "biotype": "protein_coding",
          "start": 132410043,
          "end": 132573319,
          "strand": "+",
          "slug": "cfap77"
        },
        {
          "symbol": "DDX31",
          "ensemblId": "ENSG00000125485",
          "biotype": "protein_coding",
          "start": 132536999,
          "end": 132670401,
          "strand": "-",
          "slug": "ddx31"
        },
        {
          "symbol": "BARHL1",
          "ensemblId": "ENSG00000125492",
          "biotype": "protein_coding",
          "start": 132582071,
          "end": 132591651,
          "strand": "+",
          "slug": "barhl1"
        },
        {
          "symbol": "GTF3C4",
          "ensemblId": "ENSG00000125484",
          "biotype": "protein_coding",
          "start": 132670023,
          "end": 132694953,
          "strand": "+",
          "slug": "gtf3c4"
        },
        {
          "symbol": "AK8",
          "ensemblId": "ENSG00000165695",
          "biotype": "protein_coding",
          "start": 132725573,
          "end": 132878777,
          "strand": "-",
          "slug": "ak8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Sclerosi Laterale Amiotrofica (SLA)",
        "diseases": [
          {
            "mondoId": "MONDO:0004976",
            "name": "Sclerosi laterale amiotrofica",
            "genes": 29,
            "inheritance": null,
            "description": "Una malattia neurodegenerativa dei motoneuroni superiori e inferiori, che si manifesta in forma sporadica e familiare.",
            "management": "Tofersen (Qalsody, FDA 2023) per la SLA correlata a SOD1; sperimentazioni cliniche con ASO per C9orf72 e FUS; riluzolo; edaravone; AMX0035 (fenilbutirrato di sodio-taurursodiolo); presa in carico multidisciplinare presso centri SLA specializzati; supporto respiratorio; consulenza genetica per i familiari",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Malattia di Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0018894",
            "name": "Neuropatia motoria ereditaria distale",
            "genes": 22,
            "inheritance": null,
            "description": "Neuropatie ereditarie che interessano principalmente i nervi motori, provocando debolezza e atrofia delle mani e dei piedi, inclusa la neuropatia correlata a SORD.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "dna-repair-disease",
        "name": "Malattia della riparazione del DNA",
        "diseases": [
          {
            "mondoId": "MONDO:0021190",
            "name": "Malattia della riparazione del DNA",
            "genes": 43,
            "inheritance": "autosomal-recessive",
            "description": "Una patologia che ha origine dall'alterazione dei meccanismi di riparazione del DNA.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/dna-repair-disease"
      },
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Atassie cerebellari autosomiche recessive (incluse CANVAS e AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Atassia cerebellare autosomica recessiva",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "Un gruppo di atassie a trasmissione recessiva causate da varianti bialleliche in geni come RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 e SYNE1.",
            "management": "L'atassia con deficit di vitamina E (TTPA) è trattabile con integratori di vitamina E; le altre forme sono gestite con fisioterapia e cure sintomatiche, e ai familiari può essere proposto il test di portatore.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/autosomal-recessive-cerebellar-ataxias"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Malattie neurodegenerative ereditarie",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Malattia neurodegenerativa correlata a KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Causata da alterazioni in una copia di KIF5A, che codifica una proteina motrice con una coda di legame per il carico. Tipi diversi di alterazione danno origine a condizioni diverse: paraplegia spastica ereditaria di tipo 10, una forma assonale della malattia di Charcot-Marie-Tooth e la sclerosi laterale amiotrofica (SLA).",
            "management": "La cura è sintomatica e dipende dal quadro clinico, e include fisioterapia, farmaci antispastici e un'assistenza multidisciplinare per la SLA. Ogni figlio di una persona affetta ha una probabilità su 2 di ereditare l'alterazione; la consulenza genetica aiuta le famiglie a comprendere questo rischio.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Neuropatie periferiche ereditarie rare",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Neuropatia periferica ereditaria",
            "genes": 233,
            "inheritance": null,
            "description": "Causata da alterazioni di uno dei numerosi geni necessari a mantenere sane le lunghe fibre nervose. In questo referto vi rientrano IGHMBP2 e PLEKHG5, che sono recessivi.",
            "management": "Fisioterapia, ortesi e terapia occupazionale aiutano a mantenere la mobilità, con interventi chirurgici per le deformità del piede quando necessario. Alcune forme richiedono il monitoraggio della respirazione. La consulenza genetica guida i test sui familiari in base al tipo di ereditarietà del gene coinvolto.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-lower-motor-neuron-morphology",
        "name": "Abnormal lower motor neuron morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-lower-motor-neuron-morphology"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "axonal-degeneration",
        "name": "Axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/axonal-degeneration"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "chronic-axonal-neuropathy",
        "name": "Chronic axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/chronic-axonal-neuropathy"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-compound-muscle-action-potential-amplitude",
        "name": "Decreased compound muscle action potential amplitude",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-compound-muscle-action-potential-amplitude"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "impaired-distal-tactile-sensation",
        "name": "Decreased touch sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-distal-tactile-sensation"
      },
      {
        "slug": "degeneration-of-anterior-horn-cells",
        "name": "Degeneration of anterior horn cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/degeneration-of-anterior-horn-cells"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "atrophy-of-the-spinal-cord",
        "name": "Degeneration of the spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atrophy-of-the-spinal-cord"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "diffuse-axonal-swelling",
        "name": "Diffuse axonal swelling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/diffuse-axonal-swelling"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-alpha-fetoprotein-concentration",
        "name": "Elevated circulating alpha-fetoprotein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alpha-fetoprotein-concentration"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "emg-positive-sharp-waves",
        "name": "EMG: positive sharp waves",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-positive-sharp-waves"
      },
      {
        "slug": "gaze-evoked-nystagmus",
        "name": "Gaze-evoked nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus"
      },
      {
        "slug": "head-tremor",
        "name": "Head tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/head-tremor"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "impaired-proprioception",
        "name": "Impaired proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-proprioception"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "increased-circulating-immunoglobulin-concentration",
        "name": "Increased antibody level in blood",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Lou Gehrig's disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "pallor-of-dorsal-columns-of-the-spinal-cord",
        "name": "Pallor of dorsal columns of the spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/pallor-of-dorsal-columns-of-the-spinal-cord"
      },
      {
        "slug": "peripheral-axonal-degeneration",
        "name": "Peripheral axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-axonal-degeneration"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "pontocerebellar-atrophy",
        "name": "Pontocerebellar atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/pontocerebellar-atrophy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "progressive-gait-ataxia",
        "name": "Progressive gait ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-gait-ataxia"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "conjunctival-telangiectasia",
        "name": "Small dilated blood vessels near membrane covering front of eye and eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conjunctival-telangiectasia"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "muscle-fibrillation",
        "name": "Twitching",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-fibrillation"
      },
      {
        "slug": "urinary-bladder-sphincter-dysfunction",
        "name": "Urinary bladder sphincter dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 4,
        "url": "https://dantelabs.com/it/genes/dctn1"
      },
      {
        "slug": "sigmar1",
        "symbol": "SIGMAR1",
        "name": "sigma receptor chaperone 1",
        "shared": 4,
        "url": "https://dantelabs.com/it/genes/sigmar1"
      },
      {
        "slug": "tdp1",
        "symbol": "TDP1",
        "name": "tyrosyl-DNA phosphodiesterase 1",
        "shared": 4,
        "url": "https://dantelabs.com/it/genes/tdp1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/atp7a"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/bscl2"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/chchd10"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/coa7"
      },
      {
        "slug": "coq7",
        "symbol": "COQ7",
        "name": "coenzyme Q7, hydroxylase",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/coq7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/coq8a"
      },
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/cyp27a1"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/dync1h1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}