{
  "url": "https://dantelabs.com/hu/genes/gch1",
  "gene": {
    "slug": "gch1",
    "symbol": "GCH1",
    "name": "GTP cyclohydrolase 1",
    "hgnc": "HGNC:4193",
    "summary": null,
    "location": "14q22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "GTPCH1",
      "DYT5a"
    ],
    "previousSymbols": [
      "GCH",
      "DYT5",
      "DYT14"
    ],
    "ensemblId": "ENSG00000131979",
    "entrezId": 2643,
    "omim": [
      "600225"
    ],
    "uniprot": [
      "P30793"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 54842017,
      "end": 54902826,
      "strand": "-",
      "ensemblTranscript": "ENST00000491895.7",
      "refseqTranscript": "NM_000161.3",
      "ensemblProtein": "ENSP00000419045.2",
      "refseqProtein": "NP_000152.1",
      "exons": [
        {
          "start": 54842017,
          "end": 54844143
        },
        {
          "start": 54845768,
          "end": 54845852
        },
        {
          "start": 54847099,
          "end": 54847130
        },
        {
          "start": 54859681,
          "end": 54859736
        },
        {
          "start": 54865327,
          "end": 54865436
        },
        {
          "start": 54902321,
          "end": 54902826
        }
      ],
      "cds": {
        "start": 54844017,
        "end": 54902663
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 55308726,
      "end": 55369570,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 54372422,
      "end": 55372421,
      "genes": [
        {
          "symbol": "CDKN3",
          "ensemblId": "ENSG00000100526",
          "biotype": "protein_coding",
          "start": 54396849,
          "end": 54420221,
          "strand": "+",
          "slug": "cdkn3"
        },
        {
          "symbol": "CNIH1",
          "ensemblId": "ENSG00000100528",
          "biotype": "protein_coding",
          "start": 54411952,
          "end": 54441467,
          "strand": "-",
          "slug": "cnih1"
        },
        {
          "symbol": "GMFB",
          "ensemblId": "ENSG00000197045",
          "biotype": "protein_coding",
          "start": 54474466,
          "end": 54489077,
          "strand": "-",
          "slug": "gmfb"
        },
        {
          "symbol": "CGRRF1",
          "ensemblId": "ENSG00000100532",
          "biotype": "protein_coding",
          "start": 54509812,
          "end": 54542762,
          "strand": "+",
          "slug": "cgrrf1"
        },
        {
          "symbol": "SAMD4A",
          "ensemblId": "ENSG00000020577",
          "biotype": "protein_coding",
          "start": 54566117,
          "end": 54793312,
          "strand": "+",
          "slug": "samd4a"
        },
        {
          "symbol": "WDHD1",
          "ensemblId": "ENSG00000198554",
          "biotype": "protein_coding",
          "start": 54938949,
          "end": 55027450,
          "strand": "-",
          "slug": "wdhd1"
        },
        {
          "symbol": "SOCS4",
          "ensemblId": "ENSG00000180008",
          "biotype": "protein_coding",
          "start": 55027116,
          "end": 55049489,
          "strand": "+",
          "slug": "socs4"
        },
        {
          "symbol": "MAPK1IP1L",
          "ensemblId": "ENSG00000168175",
          "biotype": "protein_coding",
          "start": 55051647,
          "end": 55070194,
          "strand": "+",
          "slug": "mapk1ip1l"
        },
        {
          "symbol": "LGALS3",
          "ensemblId": "ENSG00000131981",
          "biotype": "protein_coding",
          "start": 55121352,
          "end": 55148027,
          "strand": "+",
          "slug": "lgals3"
        },
        {
          "symbol": "DLGAP5",
          "ensemblId": "ENSG00000126787",
          "biotype": "protein_coding",
          "start": 55132272,
          "end": 55191627,
          "strand": "-",
          "slug": "dlgap5"
        },
        {
          "symbol": "FBXO34",
          "ensemblId": "ENSG00000178974",
          "biotype": "protein_coding",
          "start": 55271344,
          "end": 55384223,
          "strand": "+",
          "slug": "fbxo34"
        },
        {
          "symbol": "CHMP4BP1",
          "ensemblId": "ENSG00000258469",
          "biotype": "protein_coding",
          "start": 55271378,
          "end": 55299503,
          "strand": "+",
          "slug": "chmp4bp1"
        },
        {
          "symbol": "ATG14",
          "ensemblId": "ENSG00000126775",
          "biotype": "protein_coding",
          "start": 55366391,
          "end": 55411831,
          "strand": "-",
          "slug": "atg14"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "bh4-deficiency-and-neurotransmitter-disorders",
        "name": "BH4 Deficiency & Monoamine Neurotransmitter Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0016543",
            "name": "Hyperphenylalaninemia due to BH4 Deficiency",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in PTS, QDPR, PCBD1 or GCH1, which raise phenylalanine and reduce dopamine and serotonin, leading to movement problems, seizures and developmental delay.",
            "management": "Knowing allows treatment with BH4, neurotransmitter precursors (L-dopa, 5-hydroxytryptophan) and folinic acid where needed.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/bh4-deficiency-and-neurotransmitter-disorders"
      },
      {
        "slug": "dystonia-myotonia-paroxysmal-dyskinesia",
        "name": "Dystonia, Myotonia, Paroxysmal Dyskinesia",
        "diseases": [
          {
            "mondoId": "MONDO:0007495",
            "name": "Dystonia 5",
            "genes": 1,
            "inheritance": null,
            "description": "An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0044807",
            "name": "Inherited Dystonia",
            "genes": 34,
            "inheritance": null,
            "description": "Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/dystonia-myotonia-paroxysmal-dyskinesia"
      },
      {
        "slug": "gch1-gtp-cyclohydrolase-1-deficiency",
        "name": "GTP Cyclohydrolase 1 Deficiency",
        "diseases": [
          {
            "mondoId": "MONDO:0100184",
            "name": "GTP Cyclohydrolase 1 Deficiency",
            "genes": 1,
            "inheritance": null,
            "description": "Caused by changes in GCH1, which encodes the first enzyme in making tetrahydrobiopterin (BH4), a cofactor needed to produce dopamine and serotonin. A change in one copy causes dopa-responsive dystonia, often with reduced penetrance, while changes in both copies cause severe deficiency.",
            "management": "Dopa-responsive dystonia responds dramatically and lastingly to low doses of levodopa, so recognising it is important. The recessive form needs specialist metabolic care. Genetic counselling and testing of relatives are appropriate, noting that people with one changed copy may never develop symptoms.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/gch1-gtp-cyclohydrolase-1-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-substantia-nigra-morphology",
        "name": "Abnormal substantia nigra morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-substantia-nigra-morphology"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "abnormality-of-eye-movement",
        "name": "Abnormality of eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-eye-movement"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "cogwheel-rigidity",
        "name": "Cogwheel rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cogwheel-rigidity"
      },
      {
        "slug": "decreased-csf-homovanillic-acid-concentration",
        "name": "Decreased CSF homovanillic acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-csf-homovanillic-acid-concentration"
      },
      {
        "slug": "decreased-urinary-biopterin-level",
        "name": "Decreased urinary biopterin level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-urinary-biopterin-level"
      },
      {
        "slug": "decreased-urinary-neopterin-level",
        "name": "Decreased urinary neopterin level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-urinary-neopterin-level"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "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": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-urinary-sulfatide-level",
        "name": "Elevated urinary sulfatide level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-sulfatide-level"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "excessive-salivation",
        "name": "Excessive salivation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/excessive-salivation"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "focal-dystonia",
        "name": "Focal dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-dystonia"
      },
      {
        "slug": "gaze-evoked-horizontal-nystagmus",
        "name": "Gaze-evoked horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gaze-evoked-horizontal-nystagmus"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-dystonia",
        "name": "Generalized dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-dystonia"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "hyperkinetic-movements",
        "name": "Hyperactive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperkinetic-movements"
      },
      {
        "slug": "hyperphenylalaninemia",
        "name": "Hyperphenylalaninemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperphenylalaninemia"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "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": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "increased-csf-phenylalanine-concentration",
        "name": "Increased CSF phenylalanine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-phenylalanine-concentration"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "jaw-hyperreflexia",
        "name": "Jaw hyperreflexia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaw-hyperreflexia"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "compulsive-behaviors",
        "name": "Obsessive compulsive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/compulsive-behaviors"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "paresis-of-extensor-muscles-of-the-big-toe",
        "name": "Paresis of extensor muscles of the big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paresis-of-extensor-muscles-of-the-big-toe"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "parkinsonism-with-favorable-response-to-dopaminergic-medication",
        "name": "Parkinsonism with favorable response to dopaminergic medication",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/parkinsonism-with-favorable-response-to-dopaminergic-medication"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "progressive-flexion-contractures",
        "name": "Progressive flexion contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-flexion-contractures"
      },
      {
        "slug": "resting-tremor",
        "name": "Resting tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/resting-tremor"
      },
      {
        "slug": "rheumatoid-arthritis",
        "name": "Rheumatoid arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rheumatoid-arthritis"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-muscular-hypotonia",
        "name": "Severely decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "transient-hyperphenylalaninemia",
        "name": "Transient hyperphenylalaninemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/transient-hyperphenylalaninemia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "progressive-neurologic-deterioration",
        "name": "Worsening neurological symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration"
      },
      {
        "slug": "writer-s-cramp",
        "name": "Writer's cramp",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/writer-s-cramp"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [
      {
        "slug": "spr",
        "symbol": "SPR",
        "name": "sepiapterin reductase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/spr"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actb"
      },
      {
        "slug": "ano3",
        "symbol": "ANO3",
        "name": "anoctamin 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ano3"
      },
      {
        "slug": "arfgef3",
        "symbol": "ARFGEF3",
        "name": "ARFGEF family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arfgef3"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp1a3"
      },
      {
        "slug": "bcap31",
        "symbol": "BCAP31",
        "name": "B cell receptor associated protein 31",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/bcap31"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col6a3"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dcaf17"
      },
      {
        "slug": "gnal",
        "symbol": "GNAL",
        "name": "G protein subunit alpha L",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gnal"
      },
      {
        "slug": "hpca",
        "symbol": "HPCA",
        "name": "hippocalcin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hpca"
      },
      {
        "slug": "kcnj10",
        "symbol": "KCNJ10",
        "name": "potassium inwardly rectifying channel subfamily J member 10",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/kcnj10"
      },
      {
        "slug": "kctd17",
        "symbol": "KCTD17",
        "name": "potassium channel tetramerization domain containing 17",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/kctd17"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}