{
  "url": "https://dantelabs.com/da/genes/pygl",
  "gene": {
    "slug": "pygl",
    "symbol": "PYGL",
    "name": "glycogen phosphorylase L",
    "hgnc": "HGNC:9725",
    "summary": null,
    "location": "14q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GSD6"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000100504",
    "entrezId": 5836,
    "omim": [
      "613741"
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    "uniprot": [
      "P06737"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 50905217,
      "end": 50944483,
      "strand": "-",
      "ensemblTranscript": "ENST00000216392.8",
      "refseqTranscript": "NM_002863.5",
      "ensemblProtein": "ENSP00000216392.7",
      "refseqProtein": "NP_002854.3",
      "exons": [
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        },
        {
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          "end": 50944483
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      ],
      "cds": {
        "start": 50905392,
        "end": 50944403
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 51324609,
      "end": 51411454,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 50424850,
      "end": 51424849,
      "genes": [
        {
          "symbol": "MAP4K5",
          "ensemblId": "ENSG00000012983",
          "biotype": "protein_coding",
          "start": 50417845,
          "end": 50561126,
          "strand": "-",
          "slug": "map4k5"
        },
        {
          "symbol": "ATL1",
          "ensemblId": "ENSG00000198513",
          "biotype": "protein_coding",
          "start": 50532509,
          "end": 50634017,
          "strand": "+",
          "slug": "atl1"
        },
        {
          "symbol": "SAV1",
          "ensemblId": "ENSG00000151748",
          "biotype": "protein_coding",
          "start": 50626616,
          "end": 50668600,
          "strand": "-",
          "slug": "sav1"
        },
        {
          "symbol": "NIN",
          "ensemblId": "ENSG00000100503",
          "biotype": "protein_coding",
          "start": 50719763,
          "end": 50832038,
          "strand": "-",
          "slug": "nin"
        },
        {
          "symbol": "ABHD12B",
          "ensemblId": "ENSG00000131969",
          "biotype": "protein_coding",
          "start": 50872046,
          "end": 50904970,
          "strand": "+",
          "slug": "abhd12b"
        },
        {
          "symbol": "TRIM9",
          "ensemblId": "ENSG00000100505",
          "biotype": "protein_coding",
          "start": 50975254,
          "end": 51096084,
          "strand": "-",
          "slug": "trim9"
        },
        {
          "symbol": "TMX1",
          "ensemblId": "ENSG00000139921",
          "biotype": "protein_coding",
          "start": 51240152,
          "end": 51259059,
          "strand": "+",
          "slug": "tmx1"
        },
        {
          "symbol": "FRMD6",
          "ensemblId": "ENSG00000139926",
          "biotype": "protein_coding",
          "start": 51396647,
          "end": 51730727,
          "strand": "+",
          "slug": "frmd6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycogen-storage-disease",
        "name": "Glykogenlagringssygdom",
        "diseases": [
          {
            "mondoId": "MONDO:0009294",
            "name": "Glykogenlagringssygdom type VI",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaget af varianter i PYGL, som typisk medfører en forstørret lever og let lavt blodsukker under faste i barndommen.",
            "management": "Viden gør det muligt at undgå længerevarende faste og at tilrettelægge kosten.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/glycogen-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "exercise-induced-muscle-cramps",
        "name": "Exercise-induced muscle cramps",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-induced-muscle-cramps"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "ketosis",
        "name": "High levels of ketone bodies",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ketosis"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "increased-hepatic-glycogen-content",
        "name": "Increased hepatic glycogen content",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-hepatic-glycogen-content"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "intermittent-lactic-acidemia",
        "name": "Intermittent lactic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intermittent-lactic-acidemia"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "portal-fibrosis",
        "name": "Portal fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/portal-fibrosis"
      },
      {
        "slug": "postexertional-symptom-exacerbation",
        "name": "Postexertional symptom exacerbation",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postexertional-symptom-exacerbation"
      },
      {
        "slug": "postprandial-hyperlactemia",
        "name": "Postprandial hyperlactemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/postprandial-hyperlactemia"
      },
      {
        "slug": "reduced-hepatic-glycogen-phosphorylase-activity",
        "name": "Reduced hepatic glycogen phosphorylase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reduced-hepatic-glycogen-phosphorylase-activity"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-e609d43e",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}