{
  "url": "https://dantelabs.com/no/genes/pklr",
  "gene": {
    "slug": "pklr",
    "symbol": "PKLR",
    "name": "pyruvate kinase L/R",
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    "summary": null,
    "location": "1q22",
    "locusType": "gene with protein product",
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    "previousSymbols": [],
    "ensemblId": "ENSG00000143627",
    "entrezId": 5313,
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      "609712"
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    "uniprot": [
      "P30613"
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      "release": "v1.5",
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      "strand": "-",
      "ensemblTranscript": "ENST00000342741.6",
      "refseqTranscript": "NM_000298.6",
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          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "FLAD1",
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          "biotype": "protein_coding",
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        {
          "symbol": "ZBTB7B",
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        {
          "symbol": "DCST2",
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        {
          "symbol": "EFNA4",
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        {
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        {
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        {
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        {
          "symbol": "SLC50A1",
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        {
          "symbol": "DPM3",
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        {
          "symbol": "KRTCAP2",
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        },
        {
          "symbol": "",
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        },
        {
          "symbol": "TRIM46",
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        {
          "symbol": "MUC1",
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          "biotype": "protein_coding",
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          "slug": "muc1"
        },
        {
          "symbol": "THBS3",
          "ensemblId": "ENSG00000169231",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "MTX1",
          "ensemblId": "ENSG00000173171",
          "biotype": "protein_coding",
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        {
          "symbol": "GBA1",
          "ensemblId": "ENSG00000177628",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "gba1"
        },
        {
          "symbol": "ENTREP3",
          "ensemblId": "ENSG00000160767",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "SCAMP3",
          "ensemblId": "ENSG00000116521",
          "biotype": "protein_coding",
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          "end": 155262433,
          "strand": "-",
          "slug": "scamp3"
        },
        {
          "symbol": "CLK2",
          "ensemblId": "ENSG00000176444",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "clk2"
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        {
          "symbol": "HCN3",
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          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "FDPS",
          "ensemblId": "ENSG00000160752",
          "biotype": "protein_coding",
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        {
          "symbol": "RUSC1",
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          "biotype": "protein_coding",
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          "end": 155331422,
          "strand": "+",
          "slug": "rusc1"
        },
        {
          "symbol": "ASH1L",
          "ensemblId": "ENSG00000116539",
          "biotype": "protein_coding",
          "start": 155335268,
          "end": 155563162,
          "strand": "-",
          "slug": "ash1l"
        },
        {
          "symbol": "MSTO1",
          "ensemblId": "ENSG00000125459",
          "biotype": "protein_coding",
          "start": 155563235,
          "end": 155616644,
          "strand": "+",
          "slug": "msto1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000287839",
          "biotype": "protein_coding",
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          "end": 155648640,
          "strand": "-"
        },
        {
          "symbol": "YY1AP1",
          "ensemblId": "ENSG00000163374",
          "biotype": "protein_coding",
          "start": 155659446,
          "end": 155689334,
          "strand": "-",
          "slug": "yy1ap1"
        },
        {
          "symbol": "DAP3",
          "ensemblId": "ENSG00000132676",
          "biotype": "protein_coding",
          "start": 155687833,
          "end": 155740132,
          "strand": "+",
          "slug": "dap3"
        },
        {
          "symbol": "GON4L",
          "ensemblId": "ENSG00000116580",
          "biotype": "protein_coding",
          "start": 155749659,
          "end": 155859439,
          "strand": "-",
          "slug": "gon4l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pyruvate-kinase-deficiency-and-red-cell-enzyme-disorders",
        "name": "Pyruvatkinasemangel og andre enzymforstyrrelser i røde blodceller",
        "diseases": [
          {
            "mondoId": "MONDO:0009950",
            "name": "Pyruvatkinasemangel",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "En recessiv tilstand forårsaket av endringer i PKLR, fra mild anemi til alvorlig anemi som krever regelmessige blodtransfusjoner, ofte med gulsott, gallestein og jernopphopning.",
            "management": "Mitapivat, et oralt legemiddel som aktiverer pyruvatkinase, er godkjent for voksne, og en diagnose veileder beslutninger om jernkontroll og fjerning av milten.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/pyruvate-kinase-deficiency-and-red-cell-enzyme-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-erythrocyte-morphology",
        "name": "Abnormal erythrocyte morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-erythrocyte-morphology"
      },
      {
        "slug": "chronic-hemolytic-anemia",
        "name": "Chronic hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-hemolytic-anemia"
      },
      {
        "slug": "congenital-hemolytic-anemia",
        "name": "Congenital hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-hemolytic-anemia"
      },
      {
        "slug": "decreased-circulating-haptoglobin-concentration",
        "name": "Decreased circulating haptoglobin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-haptoglobin-concentration"
      },
      {
        "slug": "decreased-hemoglobin-concentration",
        "name": "Decreased hemoglobin concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-hemoglobin-concentration"
      },
      {
        "slug": "elevated-circulating-iron-concentration",
        "name": "Elevated circulating iron concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-iron-concentration"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "elevated-transferrin-saturation",
        "name": "Elevated transferrin saturation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-transferrin-saturation"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "erythroid-hyperplasia",
        "name": "Erythroid hyperplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroid-hyperplasia"
      },
      {
        "slug": "cholecystitis",
        "name": "Gallbladder inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/cholecystitis"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "polycythemia",
        "name": "Increased red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/polycythemia"
      },
      {
        "slug": "increased-red-cell-osmotic-fragility",
        "name": "Increased red cell osmotic fragility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/increased-red-cell-osmotic-fragility"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "poikilocytosis",
        "name": "Poikilocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poikilocytosis"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "reduced-erythrocyte-2-3-diphosphoglycerate-concentration",
        "name": "Reduced erythrocyte 2,3-diphosphoglycerate concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reduced-erythrocyte-2-3-diphosphoglycerate-concentration"
      },
      {
        "slug": "reduced-red-cell-pyruvate-kinase-level",
        "name": "Reduced red cell pyruvate kinase level",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-red-cell-pyruvate-kinase-level"
      },
      {
        "slug": "unconjugated-hyperbilirubinemia",
        "name": "Unconjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/unconjugated-hyperbilirubinemia"
      },
      {
        "slug": "anisocytosis",
        "name": "Unequal size of red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anisocytosis"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}