{
  "url": "https://dantelabs.com/nl/genes/rfx6",
  "gene": {
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        {
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        {
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        {
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        {
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      ],
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    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "Een stofwisselingsstoornis die wordt gekenmerkt door abnormaal hoge bloedsuikerspiegels als gevolg van verminderde insulineproductie of insulineresistentie/-ongevoeligheid.",
            "management": "Teplizumab (Tzield) voor presymptomatisch T1D in stadium 2 (door de FDA goedgekeurd in 2022); insulinevervanging bij klinisch begin van T1D; TrialNet-screening op autoantilichamen bij risicovolle familieleden; closed-loop-systemen voor insulinetoediening",
            "evidence": {
              "gencc": [
                "ClinGen"
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              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
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            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/diabetes-mellitus"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "duodenal-atresia",
        "name": "Absence or narrowing of first part of small bowel",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/duodenal-atresia"
      },
      {
        "slug": "absent-gallbladder",
        "name": "Absent gallbladder",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-gallbladder"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "annular-pancreas",
        "name": "Annular pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/annular-pancreas"
      },
      {
        "slug": "anteriorly-placed-anus",
        "name": "Anteriorly placed anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteriorly-placed-anus"
      },
      {
        "slug": "biliary-atresia",
        "name": "Biliary atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/biliary-atresia"
      },
      {
        "slug": "acholic-stools",
        "name": "Clay colored stools",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/acholic-stools"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "intestinal-malrotation",
        "name": "Intestinal malrotation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intestinal-malrotation"
      },
      {
        "slug": "jejunal-atresia",
        "name": "Jejunal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jejunal-atresia"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "meckel-diverticulum",
        "name": "Meckel diverticulum",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meckel-diverticulum"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "pancreatic-hypoplasia",
        "name": "Underdeveloped pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-hypoplasia"
      }
    ],
    "related": [
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/abcc8"
      },
      {
        "slug": "akt2",
        "symbol": "AKT2",
        "name": "AKT serine/threonine kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/akt2"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bscl2"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cel"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/eif2b1"
      },
      {
        "slug": "eif2s3",
        "symbol": "EIF2S3",
        "name": "eukaryotic translation initiation factor 2 subunit gamma",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/eif2s3"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gata6"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gck"
      },
      {
        "slug": "glis3",
        "symbol": "GLIS3",
        "name": "GLIS family zinc finger 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/glis3"
      },
      {
        "slug": "hnf1a",
        "symbol": "HNF1A",
        "name": "HNF1 homeobox A",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hnf1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}