{
  "url": "https://dantelabs.com/sv/genes/stx3",
  "gene": {
    "slug": "stx3",
    "symbol": "STX3",
    "name": "syntaxin 3",
    "hgnc": "HGNC:11438",
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    "location": "11q12.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "STX3A"
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      "600876"
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    "uniprot": [
      "Q13277"
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      "release": "v1.5",
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      "strand": "+",
      "ensemblTranscript": "ENST00000337979.9",
      "refseqTranscript": "NM_004177.5",
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    },
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      "build": "GRCh37",
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        {
          "symbol": "OR5AN1",
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        {
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        {
          "symbol": "OR4D6",
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          "biotype": "protein_coding",
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        {
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          "ensemblId": "ENSG00000176200",
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        {
          "symbol": "OR4D9",
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          "biotype": "protein_coding",
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        {
          "symbol": "OSBP",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "PATL1",
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          "biotype": "protein_coding",
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        {
          "symbol": "OR10V1",
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        {
          "symbol": "MRPL16",
          "ensemblId": "ENSG00000166902",
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        {
          "symbol": "CBLIF",
          "ensemblId": "ENSG00000134812",
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          "strand": "-",
          "slug": "cblif"
        },
        {
          "symbol": "TCN1",
          "ensemblId": "ENSG00000134827",
          "biotype": "protein_coding",
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        {
          "symbol": "OOSP3",
          "ensemblId": "ENSG00000285231",
          "biotype": "protein_coding",
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          "slug": "oosp3"
        },
        {
          "symbol": "OOSP1",
          "ensemblId": "ENSG00000284873",
          "biotype": "protein_coding",
          "start": 59938432,
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          "slug": "oosp1"
        },
        {
          "symbol": "OOSP4A",
          "ensemblId": "ENSG00000285010",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "oosp4a"
        },
        {
          "symbol": "OOSP4B",
          "ensemblId": "ENSG00000255393",
          "biotype": "protein_coding",
          "start": 59978020,
          "end": 60031095,
          "strand": "+",
          "slug": "oosp4b"
        },
        {
          "symbol": "OOSP2",
          "ensemblId": "ENSG00000149507",
          "biotype": "protein_coding",
          "start": 60040282,
          "end": 60053856,
          "strand": "+",
          "slug": "oosp2"
        },
        {
          "symbol": "MS4A3",
          "ensemblId": "ENSG00000149516",
          "biotype": "protein_coding",
          "start": 60056587,
          "end": 60071115,
          "strand": "+",
          "slug": "ms4a3"
        },
        {
          "symbol": "MS4A2",
          "ensemblId": "ENSG00000149534",
          "biotype": "protein_coding",
          "start": 60088261,
          "end": 60098467,
          "strand": "+",
          "slug": "ms4a2"
        },
        {
          "symbol": "MS4A6A",
          "ensemblId": "ENSG00000110077",
          "biotype": "protein_coding",
          "start": 60169930,
          "end": 60184666,
          "strand": "-",
          "slug": "ms4a6a"
        },
        {
          "symbol": "MS4A4A",
          "ensemblId": "ENSG00000110079",
          "biotype": "protein_coding",
          "start": 60185657,
          "end": 60318311,
          "strand": "+",
          "slug": "ms4a4a"
        },
        {
          "symbol": "MS4A4E",
          "ensemblId": "ENSG00000214787",
          "biotype": "protein_coding",
          "start": 60200270,
          "end": 60243162,
          "strand": "-",
          "slug": "ms4a4e"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-diarrhoeas-and-enteropathies",
        "name": "Medfödd diarré och enteropatier",
        "diseases": [
          {
            "mondoId": "MONDO:0000824",
            "name": "Medfödd diarré",
            "genes": 12,
            "inheritance": null,
            "description": "Ärftliga tillstånd, inklusive medfödd kloriddiarré (SLC26A3), microvillus inclusion disease (MYO5B), tufting enteropathy (EPCAM) och medfödd natriumdiarré (SPINT2, SLC9A3), som orsakar kronisk diarré från tidig spädbarnsålder.",
            "management": "En specifik diagnos styr behandlingen, till exempel elektrolytersättning vid kloriddiarré, eller tidig planering för parenteral nutrition eller tarmtransplantation vid microvillus inclusion disease och tufting enteropathy.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/congenital-diarrhoeas-and-enteropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-renal-physiology",
        "name": "Abnormal kidney function",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "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": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "dependency-on-parenteral-nutrition",
        "name": "Dependency on parenteral nutrition",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dependency-on-parenteral-nutrition"
      },
      {
        "slug": "hypovolemia",
        "name": "Depleted blood volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypovolemia"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "microvillar-pas-positive-secretory-granules",
        "name": "Microvillar PAS-positive secretory granules",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microvillar-pas-positive-secretory-granules"
      },
      {
        "slug": "microvillus-inclusions",
        "name": "Microvillus inclusions",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microvillus-inclusions"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "secretory-diarrhea",
        "name": "Secretory diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secretory-diarrhea"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "dgat1",
        "symbol": "DGAT1",
        "name": "diacylglycerol O-acyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dgat1"
      },
      {
        "slug": "epcam",
        "symbol": "EPCAM",
        "name": "epithelial cell adhesion molecule",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/epcam"
      },
      {
        "slug": "gucy2c",
        "symbol": "GUCY2C",
        "name": "guanylate cyclase 2C",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gucy2c"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "name": "myosin VB",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/myo5b"
      },
      {
        "slug": "neurog3",
        "symbol": "NEUROG3",
        "name": "neurogenin 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/neurog3"
      },
      {
        "slug": "plvap",
        "symbol": "PLVAP",
        "name": "plasmalemma vesicle associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/plvap"
      },
      {
        "slug": "slc26a3",
        "symbol": "SLC26A3",
        "name": "solute carrier family 26 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc26a3"
      },
      {
        "slug": "slc5a1",
        "symbol": "SLC5A1",
        "name": "solute carrier family 5 member 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc5a1"
      },
      {
        "slug": "slc9a3",
        "symbol": "SLC9A3",
        "name": "solute carrier family 9 member A3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc9a3"
      },
      {
        "slug": "spint2",
        "symbol": "SPINT2",
        "name": "serine peptidase inhibitor, Kunitz type 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/spint2"
      },
      {
        "slug": "wnt2b",
        "symbol": "WNT2B",
        "name": "Wnt family member 2B",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/wnt2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}