{
  "url": "https://dantelabs.com/lt/genes/pck1",
  "gene": {
    "slug": "pck1",
    "symbol": "PCK1",
    "name": "phosphoenolpyruvate carboxykinase 1",
    "hgnc": "HGNC:8724",
    "summary": null,
    "location": "20q13.31",
    "locusType": "gene with protein product",
    "aliases": [
      "PEPCK-C"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000124253",
    "entrezId": 5105,
    "omim": [
      "614168"
    ],
    "uniprot": [
      "P35558"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 57561110,
      "end": 57568121,
      "strand": "+",
      "ensemblTranscript": "ENST00000319441.6",
      "refseqTranscript": "NM_002591.4",
      "ensemblProtein": "ENSP00000319814.4",
      "refseqProtein": "NP_002582.3",
      "exons": [
        {
          "start": 57561110,
          "end": 57561203
        },
        {
          "start": 57561372,
          "end": 57561635
        },
        {
          "start": 57562071,
          "end": 57562252
        },
        {
          "start": 57562696,
          "end": 57562899
        },
        {
          "start": 57563028,
          "end": 57563215
        },
        {
          "start": 57563565,
          "end": 57563727
        },
        {
          "start": 57564169,
          "end": 57564393
        },
        {
          "start": 57564482,
          "end": 57564613
        },
        {
          "start": 57565040,
          "end": 57565135
        },
        {
          "start": 57565350,
          "end": 57568121
        }
      ],
      "cds": {
        "start": 57561412,
        "end": 57565804
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 56136136,
      "end": 56141513,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 57064616,
      "end": 58064615,
      "genes": [
        {
          "symbol": "BMP7",
          "ensemblId": "ENSG00000101144",
          "biotype": "protein_coding",
          "start": 57168748,
          "end": 57266680,
          "strand": "-",
          "slug": "bmp7"
        },
        {
          "symbol": "SPO11",
          "ensemblId": "ENSG00000054796",
          "biotype": "protein_coding",
          "start": 57329755,
          "end": 57343994,
          "strand": "+",
          "slug": "spo11"
        },
        {
          "symbol": "RAE1",
          "ensemblId": "ENSG00000101146",
          "biotype": "protein_coding",
          "start": 57351218,
          "end": 57380114,
          "strand": "+",
          "slug": "rae1"
        },
        {
          "symbol": "RBM38",
          "ensemblId": "ENSG00000132819",
          "biotype": "protein_coding",
          "start": 57391389,
          "end": 57409333,
          "strand": "+",
          "slug": "rbm38"
        },
        {
          "symbol": "HMGB1P1",
          "ensemblId": "ENSG00000124097",
          "biotype": "protein_coding",
          "start": 57487959,
          "end": 57495366,
          "strand": "-",
          "slug": "hmgb1p1"
        },
        {
          "symbol": "CTCFL",
          "ensemblId": "ENSG00000124092",
          "biotype": "protein_coding",
          "start": 57495966,
          "end": 57525652,
          "strand": "-",
          "slug": "ctcfl"
        },
        {
          "symbol": "ZBP1",
          "ensemblId": "ENSG00000124256",
          "biotype": "protein_coding",
          "start": 57603575,
          "end": 57620576,
          "strand": "-",
          "slug": "zbp1"
        },
        {
          "symbol": "PMEPA1",
          "ensemblId": "ENSG00000124225",
          "biotype": "protein_coding",
          "start": 57648392,
          "end": 57711536,
          "strand": "-",
          "slug": "pmepa1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-fructose-intolerance-and-gluconeogenesis-defects",
        "name": "Nepakeliamumas fruktozei ir gliukoneogenezės defektai",
        "diseases": [
          {
            "mondoId": "MONDO:0009866",
            "name": "Citozolinės fosfoenolpiruvatkarboksikinazės trūkumas",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Sukelia PCK1 variantai, dėl kurių gali pasireikšti mažo cukraus kiekio kraujyje epizodai, dažnai sergant ar badaujant.",
            "management": "Žinojimas leidžia vengti ilgo badavimo ir nedelsiant gydyti mažą cukraus kiekį kraujyje.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/hereditary-fructose-intolerance-and-gluconeogenesis-defects"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "acute-encephalopathy",
        "name": "Acute encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-encephalopathy"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "hypoglycemic-coma",
        "name": "Coma caused by low blood sugar",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemic-coma"
      },
      {
        "slug": "decreased-circulating-citrulline-concentration",
        "name": "Decreased circulating citrulline concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-citrulline-concentration"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "drowsiness",
        "name": "Drowsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/drowsiness"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-urine-fumaric-acid-level",
        "name": "Elevated urine fumaric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urine-fumaric-acid-level"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "renal-steatosis",
        "name": "Fatty kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-steatosis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hepatic-encephalopathy",
        "name": "Hepatic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-encephalopathy"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperglutaminemia",
        "name": "High plasma glutamine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperglutaminemia"
      },
      {
        "slug": "lacticaciduria",
        "name": "High urine lactic acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lacticaciduria"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hypoglycemic-seizures",
        "name": "Hypoglycemic seizures",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoglycemic-seizures"
      },
      {
        "slug": "impaired-gluconeogenesis",
        "name": "Impaired gluconeogenesis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/impaired-gluconeogenesis"
      },
      {
        "slug": "increased-hepatic-echogenicity",
        "name": "Increased hepatic echogenicity",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-hepatic-echogenicity"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "increased-urine-alpha-ketoglutarate-concentration",
        "name": "Increased urine alpha-ketoglutarate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-urine-alpha-ketoglutarate-concentration"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "neonatal-hypoglycemia",
        "name": "Low blood sugar in newborn",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-hypoglycemia"
      },
      {
        "slug": "fasting-hypoglycemia",
        "name": "Low blood sugar when fasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/fasting-hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "recurrent-hypoglycemia",
        "name": "Recurrent low blood sugar levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-hypoglycemia"
      },
      {
        "slug": "reduced-phosphoenolpyruvate-carboxykinase-activity-in-cultured-fibroblasts",
        "name": "Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-phosphoenolpyruvate-carboxykinase-activity-in-cultured-fibroblasts"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}