{
  "url": "https://dantelabs.com/genes/plvap",
  "gene": {
    "slug": "plvap",
    "symbol": "PLVAP",
    "name": "plasmalemma vesicle associated protein",
    "hgnc": "HGNC:13635",
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    "location": "19p13.11",
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    "aliases": [
      "gp68",
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      "PV1",
      "FELS"
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    "uniprot": [
      "Q9BX97"
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      "strand": "-",
      "ensemblTranscript": "ENST00000252590.9",
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    },
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        {
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        {
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        {
          "symbol": "USHBP1",
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        {
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        {
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        {
          "symbol": "ANKLE1",
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        {
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        {
          "symbol": "MRPL34",
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        {
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        {
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        {
          "symbol": "GTPBP3",
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        {
          "symbol": "CCDC194",
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        {
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        {
          "symbol": "MVB12A",
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        {
          "symbol": "TMEM221",
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        {
          "symbol": "",
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        {
          "symbol": "NXNL1",
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        {
          "symbol": "SLC27A1",
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          "biotype": "protein_coding",
          "start": 17467666,
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          "strand": "+",
          "slug": "slc27a1"
        },
        {
          "symbol": "PGLS",
          "ensemblId": "ENSG00000130313",
          "biotype": "protein_coding",
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          "slug": "pgls"
        },
        {
          "symbol": "NIBAN3",
          "ensemblId": "ENSG00000167483",
          "biotype": "protein_coding",
          "start": 17523301,
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          "strand": "+",
          "slug": "niban3"
        },
        {
          "symbol": "COLGALT1",
          "ensemblId": "ENSG00000130309",
          "biotype": "protein_coding",
          "start": 17555590,
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          "strand": "+",
          "slug": "colgalt1"
        },
        {
          "symbol": "UNC13A",
          "ensemblId": "ENSG00000130477",
          "biotype": "protein_coding",
          "start": 17601327,
          "end": 17688382,
          "strand": "-",
          "slug": "unc13a"
        },
        {
          "symbol": "MAP1S",
          "ensemblId": "ENSG00000130479",
          "biotype": "protein_coding",
          "start": 17719242,
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          "slug": "map1s"
        },
        {
          "symbol": "FCHO1",
          "ensemblId": "ENSG00000130475",
          "biotype": "protein_coding",
          "start": 17747701,
          "end": 17788572,
          "strand": "+",
          "slug": "fcho1"
        },
        {
          "symbol": "B3GNT3",
          "ensemblId": "ENSG00000179913",
          "biotype": "protein_coding",
          "start": 17794697,
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          "strand": "+",
          "slug": "b3gnt3"
        },
        {
          "symbol": "INSL3",
          "ensemblId": "ENSG00000248099",
          "biotype": "protein_coding",
          "start": 17816512,
          "end": 17821574,
          "strand": "-",
          "slug": "insl3"
        },
        {
          "symbol": "JAK3",
          "ensemblId": "ENSG00000105639",
          "biotype": "protein_coding",
          "start": 17824780,
          "end": 17848071,
          "strand": "-",
          "slug": "jak3"
        },
        {
          "symbol": "RPL18A",
          "ensemblId": "ENSG00000105640",
          "biotype": "protein_coding",
          "start": 17859868,
          "end": 17871283,
          "strand": "+",
          "slug": "rpl18a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-diarrhoeas-and-enteropathies",
        "name": "Congenital Diarrhoeas & Enteropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0000824",
            "name": "Congenital diarrhoea",
            "genes": 12,
            "inheritance": null,
            "description": "Inherited conditions, including congenital chloride diarrhoea (SLC26A3), microvillus inclusion disease (MYO5B), tufting enteropathy (EPCAM) and congenital sodium diarrhoea (SPINT2, SLC9A3), that cause chronic diarrhoea from early infancy.",
            "management": "A specific diagnosis directs treatment such as electrolyte replacement for chloride diarrhoea, or early planning for parenteral nutrition or intestinal transplant in microvillus inclusion disease and tufting enteropathy.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/congenital-diarrhoeas-and-enteropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "anasarca",
        "name": "Anasarca",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anasarca"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration",
        "name": "Elevated circulating thyroid-stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "pericardial-effusion",
        "name": "Fluid around heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/pericardial-effusion"
      },
      {
        "slug": "pleural-effusion",
        "name": "Fluid around lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pleural-effusion"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypomagnesemia",
        "name": "Low blood magnesium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypomagnesemia"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "protein-losing-enteropathy",
        "name": "Protein-losing enteropathy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/protein-losing-enteropathy"
      },
      {
        "slug": "hematochezia",
        "name": "Rectal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hematochezia"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "secretory-diarrhea",
        "name": "Secretory diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secretory-diarrhea"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      }
    ],
    "related": [
      {
        "slug": "dgat1",
        "symbol": "DGAT1",
        "name": "diacylglycerol O-acyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/dgat1"
      },
      {
        "slug": "epcam",
        "symbol": "EPCAM",
        "name": "epithelial cell adhesion molecule",
        "shared": 1,
        "url": "https://dantelabs.com/genes/epcam"
      },
      {
        "slug": "gucy2c",
        "symbol": "GUCY2C",
        "name": "guanylate cyclase 2C",
        "shared": 1,
        "url": "https://dantelabs.com/genes/gucy2c"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "name": "myosin VB",
        "shared": 1,
        "url": "https://dantelabs.com/genes/myo5b"
      },
      {
        "slug": "neurog3",
        "symbol": "NEUROG3",
        "name": "neurogenin 3",
        "shared": 1,
        "url": "https://dantelabs.com/genes/neurog3"
      },
      {
        "slug": "slc26a3",
        "symbol": "SLC26A3",
        "name": "solute carrier family 26 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/genes/slc26a3"
      },
      {
        "slug": "slc5a1",
        "symbol": "SLC5A1",
        "name": "solute carrier family 5 member 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/slc5a1"
      },
      {
        "slug": "slc9a3",
        "symbol": "SLC9A3",
        "name": "solute carrier family 9 member A3",
        "shared": 1,
        "url": "https://dantelabs.com/genes/slc9a3"
      },
      {
        "slug": "spint2",
        "symbol": "SPINT2",
        "name": "serine peptidase inhibitor, Kunitz type 2",
        "shared": 1,
        "url": "https://dantelabs.com/genes/spint2"
      },
      {
        "slug": "stx3",
        "symbol": "STX3",
        "name": "syntaxin 3",
        "shared": 1,
        "url": "https://dantelabs.com/genes/stx3"
      },
      {
        "slug": "wnt2b",
        "symbol": "WNT2B",
        "name": "Wnt family member 2B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/wnt2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}