{
  "url": "https://dantelabs.com/it/genes/egln1",
  "gene": {
    "slug": "egln1",
    "symbol": "EGLN1",
    "name": "egl-9 family hypoxia inducible factor 1",
    "hgnc": "HGNC:1232",
    "summary": null,
    "location": "1q42.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SM-20",
      "PHD2",
      "ZMYND6",
      "HIFPH2"
    ],
    "previousSymbols": [
      "C1orf12"
    ],
    "ensemblId": "ENSG00000135766",
    "entrezId": 54583,
    "omim": [
      "606425"
    ],
    "uniprot": [
      "Q9GZT9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 231363756,
      "end": 231422287,
      "strand": "-",
      "ensemblTranscript": "ENST00000366641.4",
      "refseqTranscript": "NM_022051.3",
      "ensemblProtein": "ENSP00000355601.3",
      "refseqProtein": "NP_071334.1",
      "exons": [
        {
          "start": 231363756,
          "end": 231366475
        },
        {
          "start": 231367569,
          "end": 231367636
        },
        {
          "start": 231370562,
          "end": 231370698
        },
        {
          "start": 231373980,
          "end": 231374099
        },
        {
          "start": 231420998,
          "end": 231422287
        }
      ],
      "cds": {
        "start": 231366411,
        "end": 231421888
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 231499497,
      "end": 231560790,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 230893022,
      "end": 231893021,
      "genes": [
        {
          "symbol": "TTC13",
          "ensemblId": "ENSG00000143643",
          "biotype": "protein_coding",
          "start": 230902936,
          "end": 230978893,
          "strand": "-",
          "slug": "ttc13"
        },
        {
          "symbol": "ARV1",
          "ensemblId": "ENSG00000173409",
          "biotype": "protein_coding",
          "start": 230978981,
          "end": 231000735,
          "strand": "+",
          "slug": "arv1"
        },
        {
          "symbol": "FAM89A",
          "ensemblId": "ENSG00000182118",
          "biotype": "protein_coding",
          "start": 230999826,
          "end": 231040270,
          "strand": "-",
          "slug": "fam89a"
        },
        {
          "symbol": "TRIM67",
          "ensemblId": "ENSG00000119283",
          "biotype": "protein_coding",
          "start": 231162058,
          "end": 231221565,
          "strand": "+",
          "slug": "trim67"
        },
        {
          "symbol": "FSAF1",
          "ensemblId": "ENSG00000143633",
          "biotype": "protein_coding",
          "start": 231223763,
          "end": 231241187,
          "strand": "-",
          "slug": "fsaf1"
        },
        {
          "symbol": "GNPAT",
          "ensemblId": "ENSG00000116906",
          "biotype": "protein_coding",
          "start": 231241184,
          "end": 231277973,
          "strand": "+",
          "slug": "gnpat"
        },
        {
          "symbol": "EXOC8",
          "ensemblId": "ENSG00000116903",
          "biotype": "protein_coding",
          "start": 231332753,
          "end": 231337852,
          "strand": "-",
          "slug": "exoc8"
        },
        {
          "symbol": "SPRTN",
          "ensemblId": "ENSG00000010072",
          "biotype": "protein_coding",
          "start": 231337104,
          "end": 231375416,
          "strand": "+",
          "slug": "sprtn"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000287856",
          "biotype": "protein_coding",
          "start": 231363797,
          "end": 231528603,
          "strand": "-"
        },
        {
          "symbol": "TSNAX",
          "ensemblId": "ENSG00000116918",
          "biotype": "protein_coding",
          "start": 231528541,
          "end": 231566524,
          "strand": "+",
          "slug": "tsnax"
        },
        {
          "symbol": "TSNAX-DISC1",
          "ensemblId": "ENSG00000270106",
          "biotype": "protein_coding",
          "start": 231528653,
          "end": 231819244,
          "strand": "+",
          "slug": "tsnax-disc1"
        },
        {
          "symbol": "DISC1",
          "ensemblId": "ENSG00000162946",
          "biotype": "protein_coding",
          "start": 231626663,
          "end": 232041272,
          "strand": "+",
          "slug": "disc1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-pheochromocytoma-paraganglioma",
        "name": "Feocromocitoma e paraganglioma ereditari",
        "diseases": [
          {
            "mondoId": "MONDO:1060184",
            "name": "Eritrocitosi correlata a EGLN1 e predisposizione a feocromocitoma/paraganglioma",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Varianti in EGLN1 che causano un aumento del numero di globuli rossi e un maggiore rischio di feocromocitoma e paraganglioma.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/hereditary-pheochromocytoma-paraganglioma"
      },
      {
        "slug": "polycythemia",
        "name": "Policitemia",
        "diseases": [
          {
            "mondoId": "MONDO:0012353",
            "name": "Eritrocitosi familiare 3 (EGLN1)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Una forma dominante di eritrocitosi ereditaria causata da variazioni in EGLN1 che alterano il meccanismo con cui l'organismo rileva i livelli di ossigeno e aumentano la produzione di globuli rossi.",
            "management": "Conoscere la causa ereditaria evita che la condizione venga confusa con la policitemia vera o con altre cause acquisite e permette di risparmiare indagini non necessarie.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/polycythemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "increased-circulating-hemoglobin-concentration",
        "name": "Increased circulating hemoglobin concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-hemoglobin-concentration"
      },
      {
        "slug": "increased-hematocrit",
        "name": "Increased hematocrit",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/increased-hematocrit"
      },
      {
        "slug": "increased-red-blood-cell-mass",
        "name": "Increased red blood cell mass",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/increased-red-blood-cell-mass"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}