{
  "url": "https://dantelabs.com/it/genes/tafazzin",
  "gene": {
    "slug": "tafazzin",
    "symbol": "TAFAZZIN",
    "name": "tafazzin, phospholipid-lysophospholipid transacylase",
    "hgnc": "HGNC:11577",
    "summary": null,
    "location": "Xq28",
    "locusType": "gene with protein product",
    "aliases": [
      "BTHS",
      "G4.5",
      "TAZ1"
    ],
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      "CMD3A",
      "EFE2",
      "EFE",
      "TAZ"
    ],
    "ensemblId": "ENSG00000102125",
    "entrezId": 6901,
    "omim": [
      "300394"
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    "uniprot": [
      "Q16635"
    ],
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      "release": "v1.5",
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      "end": 154421726,
      "strand": "+",
      "ensemblTranscript": "ENST00000601016.6",
      "refseqTranscript": "NM_000116.5",
      "ensemblProtein": "ENSP00000469981.1",
      "refseqProtein": "NP_000107.1",
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      "build": "GRCh37",
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        {
          "symbol": "IRAK1",
          "ensemblId": "ENSG00000184216",
          "biotype": "protein_coding",
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        {
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          "ensemblId": "ENSG00000169057",
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        {
          "symbol": "OPN1LW",
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        {
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        {
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          "biotype": "protein_coding",
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        {
          "symbol": "OPN1MW3",
          "ensemblId": "ENSG00000269433",
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        {
          "symbol": "TEX28",
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        {
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        {
          "symbol": "FLNA",
          "ensemblId": "ENSG00000196924",
          "biotype": "protein_coding",
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        {
          "symbol": "EMD",
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        {
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        {
          "symbol": "DNASE1L1",
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          "slug": "dnase1l1"
        },
        {
          "symbol": "ATP6AP1",
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          "biotype": "protein_coding",
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        {
          "symbol": "GDI1",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "gdi1"
        },
        {
          "symbol": "FAM50A",
          "ensemblId": "ENSG00000071859",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "PLXNA3",
          "ensemblId": "ENSG00000130827",
          "biotype": "protein_coding",
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          "end": 154477779,
          "strand": "+",
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        },
        {
          "symbol": "LAGE3",
          "ensemblId": "ENSG00000196976",
          "biotype": "protein_coding",
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          "end": 154479291,
          "strand": "-",
          "slug": "lage3"
        },
        {
          "symbol": "UBL4A",
          "ensemblId": "ENSG00000102178",
          "biotype": "protein_coding",
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          "end": 154486661,
          "strand": "-",
          "slug": "ubl4a"
        },
        {
          "symbol": "SLC10A3",
          "ensemblId": "ENSG00000126903",
          "biotype": "protein_coding",
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          "end": 154490690,
          "strand": "-",
          "slug": "slc10a3"
        },
        {
          "symbol": "FAM3A",
          "ensemblId": "ENSG00000071889",
          "biotype": "protein_coding",
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          "end": 154516882,
          "strand": "-",
          "slug": "fam3a"
        },
        {
          "symbol": "G6PD",
          "ensemblId": "ENSG00000160211",
          "biotype": "protein_coding",
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          "end": 154547584,
          "strand": "-",
          "slug": "g6pd"
        },
        {
          "symbol": "IKBKG",
          "ensemblId": "ENSG00000269335",
          "biotype": "protein_coding",
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          "end": 154568543,
          "strand": "+",
          "slug": "ikbkg"
        },
        {
          "symbol": "CTAG1A",
          "ensemblId": "ENSG00000268651",
          "biotype": "protein_coding",
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          "end": 154586816,
          "strand": "+",
          "slug": "ctag1a"
        },
        {
          "symbol": "CTAG1B",
          "ensemblId": "ENSG00000184033",
          "biotype": "protein_coding",
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          "end": 154619282,
          "strand": "-",
          "slug": "ctag1b"
        },
        {
          "symbol": "CTAG2",
          "ensemblId": "ENSG00000126890",
          "biotype": "protein_coding",
          "start": 154651972,
          "end": 154653579,
          "strand": "-",
          "slug": "ctag2"
        },
        {
          "symbol": "GAB3",
          "ensemblId": "ENSG00000160219",
          "biotype": "protein_coding",
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          "end": 154751583,
          "strand": "-",
          "slug": "gab3"
        },
        {
          "symbol": "DKC1",
          "ensemblId": "ENSG00000130826",
          "biotype": "protein_coding",
          "start": 154762741,
          "end": 154777697,
          "strand": "+",
          "slug": "dkc1"
        },
        {
          "symbol": "MPP1",
          "ensemblId": "ENSG00000130830",
          "biotype": "protein_coding",
          "start": 154778684,
          "end": 154821039,
          "strand": "-",
          "slug": "mpp1"
        },
        {
          "symbol": "SMIM9",
          "ensemblId": "ENSG00000203870",
          "biotype": "protein_coding",
          "start": 154823348,
          "end": 154834662,
          "strand": "-",
          "slug": "smim9"
        },
        {
          "symbol": "F8",
          "ensemblId": "ENSG00000185010",
          "biotype": "protein_coding",
          "start": 154835788,
          "end": 155026940,
          "strand": "-",
          "slug": "f8"
        },
        {
          "symbol": "H2AB1",
          "ensemblId": "ENSG00000274183",
          "biotype": "protein_coding",
          "start": 154884972,
          "end": 154885558,
          "strand": "+",
          "slug": "h2ab1"
        },
        {
          "symbol": "F8A1",
          "ensemblId": "ENSG00000288722",
          "biotype": "protein_coding",
          "start": 154886355,
          "end": 154888061,
          "strand": "+",
          "slug": "f8a1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Cardiomiopatia dilatativa",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Cardiomiopatia dilatativa",
            "genes": 50,
            "inheritance": null,
            "description": "Ingrandimento e indebolimento del ventricolo sinistro non spiegati da malattia delle arterie coronarie o delle valvole; le forme ereditarie coinvolgono TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN e molti altri geni, e includono la sindrome di Barth e le distrofie muscolari di Emery-Dreifuss.",
            "management": "Conoscere una causa genetica favorisce un monitoraggio cardiaco precoce e lo screening dei familiari; per i geni associati a un elevato rischio di aritmie, come LMNA, FLNC e RBM20, orienta le decisioni sul monitoraggio del ritmo e sull'eventuale impianto di defibrillatori.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/dilated-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "3-methylglutaconic-aciduria",
        "name": "3-Methylglutaconic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/3-methylglutaconic-aciduria"
      },
      {
        "slug": "3-methylglutaric-aciduria",
        "name": "3-Methylglutaric aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/3-methylglutaric-aciduria"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-mitochondrial-morphology",
        "name": "Abnormal mitochondrial morphology",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/abnormal-mitochondrial-morphology"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chronic-pain",
        "name": "Chronic pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-pain"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "cyclically-decreased-total-neutrophil-count",
        "name": "Cyclically decreased total neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cyclically-decreased-total-neutrophil-count"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "hypocholesterolemia",
        "name": "Decreased circulating cholesterol level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocholesterolemia"
      },
      {
        "slug": "decreased-circulating-prealbumin-concentration",
        "name": "Decreased circulating prealbumin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-prealbumin-concentration"
      },
      {
        "slug": "decreased-total-granulocyte-count",
        "name": "Decreased total granulocyte count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-granulocyte-count"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "elevated-monolysocardiolipin-cardiolipin-ratio",
        "name": "Elevated monolysocardiolipin/cardiolipin ratio",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-monolysocardiolipin-cardiolipin-ratio"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "endocardial-fibroelastosis",
        "name": "Endocardial fibroelastosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/endocardial-fibroelastosis"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "fair-hair",
        "name": "Fair hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fair-hair"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "increased-total-monocyte-count",
        "name": "High blood monocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-monocyte-count"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "hypochromic-microcytic-anemia",
        "name": "Hypochromic microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypochromic-microcytic-anemia"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "increased-left-ventricular-end-diastolic-volume",
        "name": "Increased left ventricular end-diastolic volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-left-ventricular-end-diastolic-volume"
      },
      {
        "slug": "intermittent-lactic-acidemia",
        "name": "Intermittent lactic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/intermittent-lactic-acidemia"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "left-ventricular-systolic-dysfunction",
        "name": "Left ventricular systolic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction"
      },
      {
        "slug": "lipoatrophy",
        "name": "Loss of fat tissue in localized area",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lipoatrophy"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "myopathic-facies",
        "name": "Myopathic facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathic-facies"
      },
      {
        "slug": "orthopnea",
        "name": "Orthopnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthopnea"
      },
      {
        "slug": "pointed-chin",
        "name": "Pointed chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pointed-chin"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prolonged-qtc-interval",
        "name": "Prolonged QTc interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-qtc-interval"
      },
      {
        "slug": "recurrent-bronchitis",
        "name": "Recurrent bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bronchitis"
      },
      {
        "slug": "recurrent-infections-in-infancy-and-early-childhood",
        "name": "Recurrent infections in infancy and early childhood",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-infections-in-infancy-and-early-childhood"
      },
      {
        "slug": "recurrent-infantile-hypoglycemia",
        "name": "Recurrent low blood sugar in infant",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infantile-hypoglycemia"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "skeletal-myopathy",
        "name": "Skeletal myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-myopathy"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "sudden-death",
        "name": "Sudden death",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-death"
      },
      {
        "slug": "thromboembolic-stroke",
        "name": "Thromboembolic stroke",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolic-stroke"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      },
      {
        "slug": "tube-feeding",
        "name": "Tube feeding",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tube-feeding"
      }
    ],
    "related": [
      {
        "slug": "abcc9",
        "symbol": "ABCC9",
        "name": "ATP binding cassette subfamily C member 9",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/abcc9"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/actc1"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "name": "BAG cochaperone 3",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/bag3"
      },
      {
        "slug": "bag5",
        "symbol": "BAG5",
        "name": "BAG cochaperone 5",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/bag5"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/des"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "name": "dystrophin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dmd"
      },
      {
        "slug": "dolk",
        "symbol": "DOLK",
        "name": "dolichol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dolk"
      },
      {
        "slug": "emd",
        "symbol": "EMD",
        "name": "emerin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/emd"
      },
      {
        "slug": "fhl1",
        "symbol": "FHL1",
        "name": "four and a half LIM domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/fhl1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/fktn"
      },
      {
        "slug": "flii",
        "symbol": "FLII",
        "name": "FLII actin remodeling protein",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/flii"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/flnc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}