{
  "url": "https://dantelabs.com/sv/genes/hfe",
  "gene": {
    "slug": "hfe",
    "symbol": "HFE",
    "name": "homeostatic iron regulator",
    "hgnc": "HGNC:4886",
    "summary": null,
    "location": "6p22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "HLA-H",
      "HFE1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000010704",
    "entrezId": 3077,
    "omim": [
      "613609"
    ],
    "uniprot": [
      "Q30201"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 26087429,
      "end": 26098343,
      "strand": "+",
      "ensemblTranscript": "ENST00000357618.10",
      "refseqTranscript": "NM_000410.4",
      "ensemblProtein": "ENSP00000417404.1",
      "refseqProtein": "NP_000401.1",
      "exons": [
        {
          "start": 26087429,
          "end": 26087516
        },
        {
          "start": 26090841,
          "end": 26091104
        },
        {
          "start": 26091314,
          "end": 26091589
        },
        {
          "start": 26092685,
          "end": 26092960
        },
        {
          "start": 26093119,
          "end": 26093232
        },
        {
          "start": 26094186,
          "end": 26098343
        }
      ],
      "cds": {
        "start": 26087441,
        "end": 26094226
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 26087509,
      "end": 26098571,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 25592886,
      "end": 26592885,
      "genes": [
        {
          "symbol": "CARMIL1",
          "ensemblId": "ENSG00000079691",
          "biotype": "protein_coding",
          "start": 25279062,
          "end": 25620537,
          "strand": "+",
          "slug": "carmil1"
        },
        {
          "symbol": "SCGN",
          "ensemblId": "ENSG00000079689",
          "biotype": "protein_coding",
          "start": 25652201,
          "end": 25701792,
          "strand": "+",
          "slug": "scgn"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290217",
          "biotype": "protein_coding",
          "start": 25652210,
          "end": 25738044,
          "strand": "+"
        },
        {
          "symbol": "H2AC1",
          "ensemblId": "ENSG00000164508",
          "biotype": "protein_coding",
          "start": 25723397,
          "end": 25726562,
          "strand": "-",
          "slug": "h2ac1"
        },
        {
          "symbol": "H2BC1",
          "ensemblId": "ENSG00000146047",
          "biotype": "protein_coding",
          "start": 25726777,
          "end": 25727345,
          "strand": "+",
          "slug": "h2bc1"
        },
        {
          "symbol": "SLC17A4",
          "ensemblId": "ENSG00000146039",
          "biotype": "protein_coding",
          "start": 25753300,
          "end": 25783316,
          "strand": "+",
          "slug": "slc17a4"
        },
        {
          "symbol": "SLC17A1",
          "ensemblId": "ENSG00000124568",
          "biotype": "protein_coding",
          "start": 25781532,
          "end": 25832067,
          "strand": "-",
          "slug": "slc17a1"
        },
        {
          "symbol": "SLC17A3",
          "ensemblId": "ENSG00000124564",
          "biotype": "protein_coding",
          "start": 25833066,
          "end": 25882478,
          "strand": "-",
          "slug": "slc17a3"
        },
        {
          "symbol": "SLC17A2",
          "ensemblId": "ENSG00000112337",
          "biotype": "protein_coding",
          "start": 25906892,
          "end": 25930815,
          "strand": "-",
          "slug": "slc17a2"
        },
        {
          "symbol": "TRIM38",
          "ensemblId": "ENSG00000112343",
          "biotype": "protein_coding",
          "start": 25962693,
          "end": 25991231,
          "strand": "+",
          "slug": "trim38"
        },
        {
          "symbol": "H1-1",
          "ensemblId": "ENSG00000124610",
          "biotype": "protein_coding",
          "start": 26017032,
          "end": 26017787,
          "strand": "-",
          "slug": "h1-1"
        },
        {
          "symbol": "H3C1",
          "ensemblId": "ENSG00000275714",
          "biotype": "protein_coding",
          "start": 26020451,
          "end": 26021487,
          "strand": "+",
          "slug": "h3c1"
        },
        {
          "symbol": "H4C1",
          "ensemblId": "ENSG00000278637",
          "biotype": "protein_coding",
          "start": 26021649,
          "end": 26022847,
          "strand": "+",
          "slug": "h4c1"
        },
        {
          "symbol": "H4C2",
          "ensemblId": "ENSG00000278705",
          "biotype": "protein_coding",
          "start": 26025802,
          "end": 26027283,
          "strand": "-",
          "slug": "h4c2"
        },
        {
          "symbol": "H3C2",
          "ensemblId": "ENSG00000286522",
          "biotype": "protein_coding",
          "start": 26028850,
          "end": 26032102,
          "strand": "-",
          "slug": "h3c2"
        },
        {
          "symbol": "H2AC4",
          "ensemblId": "ENSG00000278463",
          "biotype": "protein_coding",
          "start": 26033092,
          "end": 26033618,
          "strand": "-",
          "slug": "h2ac4"
        },
        {
          "symbol": "H2BC3",
          "ensemblId": "ENSG00000276410",
          "biotype": "protein_coding",
          "start": 26042771,
          "end": 26043713,
          "strand": "-",
          "slug": "h2bc3"
        },
        {
          "symbol": "H3C3",
          "ensemblId": "ENSG00000287080",
          "biotype": "protein_coding",
          "start": 26045384,
          "end": 26045869,
          "strand": "+",
          "slug": "h3c3"
        },
        {
          "symbol": "H1-2",
          "ensemblId": "ENSG00000187837",
          "biotype": "protein_coding",
          "start": 26054760,
          "end": 26056470,
          "strand": "-",
          "slug": "h1-2"
        },
        {
          "symbol": "H2BC4",
          "ensemblId": "ENSG00000180596",
          "biotype": "protein_coding",
          "start": 26067392,
          "end": 26124016,
          "strand": "-",
          "slug": "h2bc4"
        },
        {
          "symbol": "H4C3",
          "ensemblId": "ENSG00000197061",
          "biotype": "protein_coding",
          "start": 26103933,
          "end": 26104337,
          "strand": "+",
          "slug": "h4c3"
        },
        {
          "symbol": "H1-6",
          "ensemblId": "ENSG00000187475",
          "biotype": "protein_coding",
          "start": 26107412,
          "end": 26108135,
          "strand": "-",
          "slug": "h1-6"
        },
        {
          "symbol": "H2AC6",
          "ensemblId": "ENSG00000180573",
          "biotype": "protein_coding",
          "start": 26124145,
          "end": 26139116,
          "strand": "+",
          "slug": "h2ac6"
        },
        {
          "symbol": "H1-4",
          "ensemblId": "ENSG00000168298",
          "biotype": "protein_coding",
          "start": 26156329,
          "end": 26157115,
          "strand": "+",
          "slug": "h1-4"
        },
        {
          "symbol": "H2BC5",
          "ensemblId": "ENSG00000158373",
          "biotype": "protein_coding",
          "start": 26158122,
          "end": 26171349,
          "strand": "+",
          "slug": "h2bc5"
        },
        {
          "symbol": "H2BC6",
          "ensemblId": "ENSG00000274290",
          "biotype": "protein_coding",
          "start": 26172059,
          "end": 26184655,
          "strand": "+",
          "slug": "h2bc6"
        },
        {
          "symbol": "H4C4",
          "ensemblId": "ENSG00000277157",
          "biotype": "protein_coding",
          "start": 26188710,
          "end": 26189112,
          "strand": "-",
          "slug": "h4c4"
        },
        {
          "symbol": "H3C4",
          "ensemblId": "ENSG00000197409",
          "biotype": "protein_coding",
          "start": 26195164,
          "end": 26197286,
          "strand": "-",
          "slug": "h3c4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000282988",
          "biotype": "protein_coding",
          "start": 26195595,
          "end": 26199293,
          "strand": "-"
        },
        {
          "symbol": "H2AC7",
          "ensemblId": "ENSG00000196866",
          "biotype": "protein_coding",
          "start": 26198784,
          "end": 26199293,
          "strand": "-",
          "slug": "h2ac7"
        },
        {
          "symbol": "H2BC7",
          "ensemblId": "ENSG00000277224",
          "biotype": "protein_coding",
          "start": 26199516,
          "end": 26199988,
          "strand": "+",
          "slug": "h2bc7"
        },
        {
          "symbol": "H4C5",
          "ensemblId": "ENSG00000276966",
          "biotype": "protein_coding",
          "start": 26204610,
          "end": 26205021,
          "strand": "+",
          "slug": "h4c5"
        },
        {
          "symbol": "H2BC8",
          "ensemblId": "ENSG00000273802",
          "biotype": "protein_coding",
          "start": 26214570,
          "end": 26217252,
          "strand": "-",
          "slug": "h2bc8"
        },
        {
          "symbol": "H2AC8",
          "ensemblId": "ENSG00000277075",
          "biotype": "protein_coding",
          "start": 26216921,
          "end": 26218515,
          "strand": "+",
          "slug": "h2ac8"
        },
        {
          "symbol": "H3C6",
          "ensemblId": "ENSG00000274750",
          "biotype": "protein_coding",
          "start": 26224179,
          "end": 26227476,
          "strand": "+",
          "slug": "h3c6"
        },
        {
          "symbol": "H1-3",
          "ensemblId": "ENSG00000124575",
          "biotype": "protein_coding",
          "start": 26234212,
          "end": 26234987,
          "strand": "-",
          "slug": "h1-3"
        },
        {
          "symbol": "H4C6",
          "ensemblId": "ENSG00000274618",
          "biotype": "protein_coding",
          "start": 26240393,
          "end": 26240793,
          "strand": "+",
          "slug": "h4c6"
        },
        {
          "symbol": "H4C7",
          "ensemblId": "ENSG00000275663",
          "biotype": "protein_coding",
          "start": 26246611,
          "end": 26246996,
          "strand": "-",
          "slug": "h4c7"
        },
        {
          "symbol": "H3C7",
          "ensemblId": "ENSG00000277775",
          "biotype": "protein_coding",
          "start": 26250142,
          "end": 26250635,
          "strand": "-",
          "slug": "h3c7"
        },
        {
          "symbol": "H2BC9",
          "ensemblId": "ENSG00000275713",
          "biotype": "protein_coding",
          "start": 26251614,
          "end": 26252075,
          "strand": "+",
          "slug": "h2bc9"
        },
        {
          "symbol": "H3C8",
          "ensemblId": "ENSG00000273983",
          "biotype": "protein_coding",
          "start": 26270918,
          "end": 26271413,
          "strand": "-",
          "slug": "h3c8"
        },
        {
          "symbol": "H2BC10",
          "ensemblId": "ENSG00000278588",
          "biotype": "protein_coding",
          "start": 26272931,
          "end": 26273412,
          "strand": "+",
          "slug": "h2bc10"
        },
        {
          "symbol": "H4C8",
          "ensemblId": "ENSG00000158406",
          "biotype": "protein_coding",
          "start": 26277609,
          "end": 26285638,
          "strand": "-",
          "slug": "h4c8"
        },
        {
          "symbol": "BTN3A2",
          "ensemblId": "ENSG00000186470",
          "biotype": "protein_coding",
          "start": 26365159,
          "end": 26382797,
          "strand": "+",
          "slug": "btn3a2"
        },
        {
          "symbol": "BTN2A2",
          "ensemblId": "ENSG00000124508",
          "biotype": "protein_coding",
          "start": 26383091,
          "end": 26394880,
          "strand": "+",
          "slug": "btn2a2"
        },
        {
          "symbol": "BTN3A1",
          "ensemblId": "ENSG00000026950",
          "biotype": "protein_coding",
          "start": 26402237,
          "end": 26415216,
          "strand": "+",
          "slug": "btn3a1"
        },
        {
          "symbol": "BTN3A3",
          "ensemblId": "ENSG00000111801",
          "biotype": "protein_coding",
          "start": 26440452,
          "end": 26453422,
          "strand": "+",
          "slug": "btn3a3"
        },
        {
          "symbol": "BTN2A1",
          "ensemblId": "ENSG00000112763",
          "biotype": "protein_coding",
          "start": 26457904,
          "end": 26476621,
          "strand": "+",
          "slug": "btn2a1"
        },
        {
          "symbol": "BTN1A1",
          "ensemblId": "ENSG00000124557",
          "biotype": "protein_coding",
          "start": 26500303,
          "end": 26510425,
          "strand": "+",
          "slug": "btn1a1"
        },
        {
          "symbol": "HMGN4",
          "ensemblId": "ENSG00000182952",
          "biotype": "protein_coding",
          "start": 26538200,
          "end": 26546949,
          "strand": "+",
          "slug": "hmgn4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hemochromatosis",
        "name": "Hemokromatos",
        "diseases": [
          {
            "mondoId": "MONDO:0006507",
            "name": "Ärftlig hemokromatos",
            "genes": 6,
            "inheritance": null,
            "description": "En ärftlig metabol sjukdom som kännetecknas av järnansamling i vävnaderna.",
            "management": "Flebotomi, järnkelering, järnfattig kost, screening av familjemedlemmar",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hemochromatosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [
      {
        "slug": "nutrigenetics",
        "traits": [
          {
            "key": "iron-overload-c282y",
            "title": "Järnöverskott (C282Y)"
          },
          {
            "key": "iron-absorption-h63d",
            "title": "Järnupptag (H63D)"
          }
        ],
        "name": "Nutrigenetik",
        "url": "https://dantelabs.com/sv/whole-genome-sequencing/nutrigenetics"
      }
    ],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "amenorrhea",
        "name": "Abnormal absence of menstruation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amenorrhea"
      },
      {
        "slug": "erectile-dysfunction",
        "name": "Abnormal erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/erectile-dysfunction"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormality-of-iron-homeostasis",
        "name": "Abnormality of iron homeostasis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-iron-homeostasis"
      },
      {
        "slug": "abnormal-metacarpophalangeal-joint-morphology",
        "name": "Abnormality of the knuckle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-metacarpophalangeal-joint-morphology"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "absent-vas-deferens",
        "name": "Absent vas deferens",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-vas-deferens"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "cholangiocarcinoma",
        "name": "Bile duct cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cholangiocarcinoma"
      },
      {
        "slug": "generalized-bronze-hyperpigmentation",
        "name": "Bronze skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-bronze-hyperpigmentation"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chronic-hepatic-failure",
        "name": "Chronic liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-hepatic-failure"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "decreased-body-mass-index",
        "name": "Decreased body mass index",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-body-mass-index"
      },
      {
        "slug": "decreased-libido",
        "name": "Decreased libido",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-libido"
      },
      {
        "slug": "decreased-muscle-mass",
        "name": "Decreased muscle mass",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-muscle-mass"
      },
      {
        "slug": "decreased-serum-testosterone-concentration",
        "name": "Decreased serum testosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-serum-testosterone-concentration"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "impotence",
        "name": "Difficulty getting a full erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/impotence"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "arthropathy",
        "name": "Disease of the joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthropathy"
      },
      {
        "slug": "elevated-circulating-iron-concentration",
        "name": "Elevated circulating iron concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-iron-concentration"
      },
      {
        "slug": "elevated-jugular-venous-pressure",
        "name": "Elevated jugular venous pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-jugular-venous-pressure"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "elevated-sweat-chloride",
        "name": "Elevated sweat chloride",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-sweat-chloride"
      },
      {
        "slug": "elevated-transferrin-saturation",
        "name": "Elevated transferrin saturation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-transferrin-saturation"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "gynecomastia",
        "name": "Enlarged male breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gynecomastia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "pleural-effusion",
        "name": "Fluid around lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pleural-effusion"
      },
      {
        "slug": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "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": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "exocrine-pancreatic-insufficiency",
        "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "joint-swelling",
        "name": "Joint swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-swelling"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "meconium-ileus",
        "name": "Meconium ileus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meconium-ileus"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nasal-polyposis",
        "name": "Nasal polyposis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nasal-polyposis"
      },
      {
        "slug": "nontuberculous-mycobacterial-pulmonary-infection",
        "name": "Nontuberculous mycobacterial pulmonary infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nontuberculous-mycobacterial-pulmonary-infection"
      },
      {
        "slug": "airway-obstruction",
        "name": "Obstructive lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/airway-obstruction"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "rectal-prolapse",
        "name": "Rectum protrudes through anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rectal-prolapse"
      },
      {
        "slug": "recurrent-aspergillus-infection",
        "name": "Recurrent Aspergillus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-aspergillus-infection"
      },
      {
        "slug": "recurrent-burkholderia-cepacia-infection",
        "name": "Recurrent Burkholderia cepacia infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-burkholderia-cepacia-infection"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-haemophilus-influenzae-infection",
        "name": "Recurrent Haemophilus influenzae infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-haemophilus-influenzae-infection"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-staphylococcus-aureus-infection",
        "name": "Recurrent Staphylococcus aureus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-staphylococcus-aureus-infection"
      },
      {
        "slug": "reduced-forced-expiratory-volume-in-one-second",
        "name": "Reduced forced expiratory volume in one second",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-forced-expiratory-volume-in-one-second"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "telangiectasia",
        "name": "Spider veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/telangiectasia"
      },
      {
        "slug": "stiff-interphalangeal-joints",
        "name": "Stiff hinge joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stiff-interphalangeal-joints"
      },
      {
        "slug": "testicular-atrophy",
        "name": "Testicular degeneration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/testicular-atrophy"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "cybrd1",
        "symbol": "CYBRD1",
        "name": "cytochrome b reductase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cybrd1"
      },
      {
        "slug": "hamp",
        "symbol": "HAMP",
        "name": "hepcidin antimicrobial peptide",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hamp"
      },
      {
        "slug": "hjv",
        "symbol": "HJV",
        "name": "hemojuvelin BMP co-receptor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hjv"
      },
      {
        "slug": "slc40a1",
        "symbol": "SLC40A1",
        "name": "solute carrier family 40 member 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc40a1"
      },
      {
        "slug": "tfr2",
        "symbol": "TFR2",
        "name": "transferrin receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/tfr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 4,
    "url": "https://dantelabs.com/genes/hfe/variants",
    "items": [
      {
        "slug": "c-1006plus1g-a",
        "name": "c.1006+1G>A",
        "commonName": null,
        "symbol": "HFE",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 26093233,
        "grch37Position": 26093461,
        "part": {
          "kind": "intron",
          "number": 5
        },
        "url": "https://dantelabs.com/genes/hfe/variants/c-1006plus1g-a"
      },
      {
        "slug": "c282y",
        "name": "C282Y",
        "commonName": null,
        "symbol": "HFE",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.845G>A",
        "position": 26092913,
        "grch37Position": 26093141,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/hfe/variants/c282y"
      },
      {
        "slug": "l183gfs60",
        "name": "L183Gfs*60",
        "commonName": null,
        "symbol": "HFE",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.546_547del",
        "position": 26091518,
        "grch37Position": 26091746,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/hfe/variants/l183gfs60"
      },
      {
        "slug": "r71x",
        "name": "R71X",
        "commonName": null,
        "symbol": "HFE",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.211C>T",
        "position": 26090975,
        "grch37Position": 26091203,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/hfe/variants/r71x"
      }
    ]
  }
}