{
  "url": "https://dantelabs.com/da/genes/myo5b",
  "gene": {
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    "reports": [
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        "slug": "congenital-diarrhoeas-and-enteropathies",
        "name": "Medfødt diarré og enteropatier",
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          {
            "mondoId": "MONDO:0000824",
            "name": "Medfødt diarré",
            "genes": 12,
            "inheritance": null,
            "description": "Arvelige tilstande, herunder medfødt kloriddiarré (SLC26A3), microvillus inclusion disease (MYO5B), tufting-enteropati (EPCAM) og medfødt natriumdiarré (SPINT2, SLC9A3), som giver kronisk diarré fra tidlig spædbarnsalder.",
            "management": "En specifik diagnose styrer behandlingen, fx erstatning af elektrolytter ved kloriddiarré, eller tidlig planlægning af parenteral ernæring eller tarmtransplantation ved microvillus inclusion disease og tufting-enteropati.",
            "evidence": {
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                "Labcorp Genetics (formerly Invitae)"
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              "inheritance": [
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            "sameAsReport": false,
            "broad": false
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        ],
        "url": "https://dantelabs.com/da/conditions/congenital-diarrhoeas-and-enteropathies"
      },
      {
        "slug": "familial-intrahepatic-cholestasis",
        "name": "Familiær intrahepatisk kolestase",
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            "mondoId": "MONDO:0017290",
            "name": "Familiær intrahepatisk kolestase",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "En forekomst af intrahepatisk kolestase, der skyldes en arvelig ændring i individets genom.",
            "management": null,
            "evidence": {
              "gencc": [
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              "acmgSf": false,
              "inheritance": [
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            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/familial-intrahepatic-cholestasis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-renal-physiology",
        "name": "Abnormal kidney function",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-renal-physiology"
      },
      {
        "slug": "abnormal-small-intestinal-villus-morphology",
        "name": "Abnormal small intestinal villus morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-small-intestinal-villus-morphology"
      },
      {
        "slug": "abnormal-intestine-morphology",
        "name": "Abnormality of the intestine",
        "systems": [
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        "url": "https://dantelabs.com/traits/abnormal-intestine-morphology"
      },
      {
        "slug": "acholic-stools",
        "name": "Clay colored stools",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acholic-stools"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "hypovolemia",
        "name": "Depleted blood volume",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypovolemia"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
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        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "increased-total-bilirubin",
        "name": "High bili total",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-bilirubin"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "increased-serum-bile-acid-concentration",
        "name": "Increased serum bile acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-serum-bile-acid-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
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          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "malnutrition",
        "name": "Malnutrition",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/malnutrition"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "portal-fibrosis",
        "name": "Portal fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-fibrosis"
      },
      {
        "slug": "protracted-diarrhea",
        "name": "Protracted diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/protracted-diarrhea"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      }
    ],
    "related": [
      {
        "slug": "abcb11",
        "symbol": "ABCB11",
        "name": "ATP binding cassette subfamily B member 11",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/abcb11"
      },
      {
        "slug": "abcb4",
        "symbol": "ABCB4",
        "name": "ATP binding cassette subfamily B member 4",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/abcb4"
      },
      {
        "slug": "atp8b1",
        "symbol": "ATP8B1",
        "name": "ATPase phospholipid transporting 8B1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atp8b1"
      },
      {
        "slug": "dgat1",
        "symbol": "DGAT1",
        "name": "diacylglycerol O-acyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/dgat1"
      },
      {
        "slug": "epcam",
        "symbol": "EPCAM",
        "name": "epithelial cell adhesion molecule",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/epcam"
      },
      {
        "slug": "gucy2c",
        "symbol": "GUCY2C",
        "name": "guanylate cyclase 2C",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/gucy2c"
      },
      {
        "slug": "kif12",
        "symbol": "KIF12",
        "name": "kinesin family member 12",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/kif12"
      },
      {
        "slug": "neurog3",
        "symbol": "NEUROG3",
        "name": "neurogenin 3",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/neurog3"
      },
      {
        "slug": "nr1h4",
        "symbol": "NR1H4",
        "name": "nuclear receptor subfamily 1 group H member 4",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/nr1h4"
      },
      {
        "slug": "plvap",
        "symbol": "PLVAP",
        "name": "plasmalemma vesicle associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/plvap"
      },
      {
        "slug": "pskh1",
        "symbol": "PSKH1",
        "name": "protein serine kinase H1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/pskh1"
      },
      {
        "slug": "slc26a3",
        "symbol": "SLC26A3",
        "name": "solute carrier family 26 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/slc26a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}