{
  "url": "https://dantelabs.com/it/genes/agl",
  "gene": {
    "slug": "agl",
    "symbol": "AGL",
    "name": "amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase",
    "hgnc": "HGNC:321",
    "summary": null,
    "location": "1p21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "GDE"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000162688",
    "entrezId": 178,
    "omim": [
      "610860"
    ],
    "uniprot": [
      "P35573"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 99850361,
      "end": 99924020,
      "strand": "+",
      "ensemblTranscript": "ENST00000361915.8",
      "refseqTranscript": "NM_000642.3",
      "ensemblProtein": "ENSP00000355106.3",
      "refseqProtein": "NP_000633.2",
      "exons": [
        {
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          "end": 99850415
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
        {
          "start": 99916410,
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        },
        {
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        },
        {
          "start": 99921534,
          "end": 99924020
        }
      ],
      "cds": {
        "start": 99851043,
        "end": 99921651
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 100315640,
      "end": 100389579,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 99387191,
      "end": 100387190,
      "genes": [
        {
          "symbol": "PALMD",
          "ensemblId": "ENSG00000099260",
          "biotype": "protein_coding",
          "start": 99645499,
          "end": 99695178,
          "strand": "+",
          "slug": "palmd"
        },
        {
          "symbol": "FRRS1",
          "ensemblId": "ENSG00000156869",
          "biotype": "protein_coding",
          "start": 99703970,
          "end": 99766642,
          "strand": "-",
          "slug": "frrs1"
        },
        {
          "symbol": "SLC35A3",
          "ensemblId": "ENSG00000117620",
          "biotype": "protein_coding",
          "start": 99969351,
          "end": 100035634,
          "strand": "+",
          "slug": "slc35a3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000283761",
          "biotype": "protein_coding",
          "start": 99970011,
          "end": 100083321,
          "strand": "+"
        },
        {
          "symbol": "SLC71A1",
          "ensemblId": "ENSG00000156875",
          "biotype": "protein_coding",
          "start": 100038076,
          "end": 100083948,
          "strand": "+",
          "slug": "slc71a1"
        },
        {
          "symbol": "SASS6",
          "ensemblId": "ENSG00000156876",
          "biotype": "protein_coding",
          "start": 100083563,
          "end": 100132955,
          "strand": "-",
          "slug": "sass6"
        },
        {
          "symbol": "TRMT13",
          "ensemblId": "ENSG00000122435",
          "biotype": "protein_coding",
          "start": 100133043,
          "end": 100151150,
          "strand": "+",
          "slug": "trmt13"
        },
        {
          "symbol": "LRRC39",
          "ensemblId": "ENSG00000122477",
          "biotype": "protein_coding",
          "start": 100146522,
          "end": 100178306,
          "strand": "-",
          "slug": "lrrc39"
        },
        {
          "symbol": "DBT",
          "ensemblId": "ENSG00000137992",
          "biotype": "protein_coding",
          "start": 100182222,
          "end": 100249873,
          "strand": "-",
          "slug": "dbt"
        },
        {
          "symbol": "RTCA",
          "ensemblId": "ENSG00000137996",
          "biotype": "protein_coding",
          "start": 100266154,
          "end": 100292769,
          "strand": "+",
          "slug": "rtca"
        },
        {
          "symbol": "CDC14A",
          "ensemblId": "ENSG00000079335",
          "biotype": "protein_coding",
          "start": 100325629,
          "end": 100520564,
          "strand": "+",
          "slug": "cdc14a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycogen-storage-disease",
        "name": "Glicogenosi",
        "diseases": [
          {
            "mondoId": "MONDO:0009291",
            "name": "Malattia da accumulo di glicogeno di tipo III",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Causata da varianti in AGL, che provocano bassi livelli di zucchero nel sangue, un fegato ingrossato e, in molte persone, debolezza muscolare e del muscolo cardiaco.",
            "management": "Conoscere questa condizione consente di seguire una dieta ricca di proteine con pasti regolari e il monitoraggio di fegato, cuore e muscoli.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/glycogen-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "broad-nasal-tip",
        "name": "Broad nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/broad-nasal-tip"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "reduced-muscle-glycogen-debrancher-enzyme-activity",
        "name": "Reduced muscle glycogen debrancher enzyme activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-muscle-glycogen-debrancher-enzyme-activity"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "ventricular-hypertrophy",
        "name": "Ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-hypertrophy"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}