{
  "url": "https://dantelabs.com/nl/genes/gys2",
  "gene": {
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    "symbol": "GYS2",
    "name": "glycogen synthase 2",
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    "location": "12p12.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
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      "strand": "-",
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      "refseqTranscript": "NM_021957.4",
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    "grch37": {
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    "neighbourhood": {
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      "genes": [
        {
          "symbol": "SLCO1B3-SLCO1B7",
          "ensemblId": "ENSG00000257046",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "slco1b3-slco1b7"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000257062",
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        {
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        {
          "symbol": "SLCO1A2",
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        {
          "symbol": "IAPP",
          "ensemblId": "ENSG00000121351",
          "biotype": "protein_coding",
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        {
          "symbol": "PYROXD1",
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        {
          "symbol": "RECQL",
          "ensemblId": "ENSG00000004700",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "recql"
        },
        {
          "symbol": "GOLT1B",
          "ensemblId": "ENSG00000111711",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "golt1b"
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        {
          "symbol": "SPX",
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          "slug": "spx"
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        {
          "symbol": "",
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        },
        {
          "symbol": "LDHB",
          "ensemblId": "ENSG00000111716",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ldhb"
        },
        {
          "symbol": "KCNJ8",
          "ensemblId": "ENSG00000121361",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "kcnj8"
        },
        {
          "symbol": "ABCC9",
          "ensemblId": "ENSG00000069431",
          "biotype": "protein_coding",
          "start": 21797389,
          "end": 21942543,
          "strand": "-",
          "slug": "abcc9"
        },
        {
          "symbol": "CMAS",
          "ensemblId": "ENSG00000111726",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cmas"
        },
        {
          "symbol": "ST8SIA1",
          "ensemblId": "ENSG00000111728",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "st8sia1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycogen-storage-disease",
        "name": "Glykogeenstapelingsziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0009414",
            "name": "Glycogeenopslagziekte type 0 (leverglycogeensynthasedeficiëntie)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Veroorzaakt door varianten in GYS2, die bij kinderen na een nacht vasten een lage bloedsuikerspiegel en ketonen veroorzaken.",
            "management": "Door dit te weten kunt u vaak eiwitrijke maaltijden eten en zetmeel voor het slapengaan nemen om een lage bloedsuikerspiegel te voorkomen.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/glycogen-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-gastrointestinal-tract",
        "name": "Abnormality of the gastrointestinal tract",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-gastrointestinal-tract"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "ketotic-hypoglycemia",
        "name": "Ketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ketotic-hypoglycemia"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "neonatal-hypoglycemia",
        "name": "Low blood sugar in newborn",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "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": "postprandial-hyperglycemia",
        "name": "Postprandial hyperglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postprandial-hyperglycemia"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}