{
  "url": "https://dantelabs.com/nl/genes/eif2ak4",
  "gene": {
    "slug": "eif2ak4",
    "symbol": "EIF2AK4",
    "name": "eukaryotic translation initiation factor 2 alpha kinase 4",
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      "609280"
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    "uniprot": [
      "Q9P2K8"
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
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      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "THBS1",
          "ensemblId": "ENSG00000137801",
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          "start": 39580130,
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        {
          "symbol": "FSIP1",
          "ensemblId": "ENSG00000150667",
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          "start": 39588357,
          "end": 39782858,
          "strand": "-",
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        },
        {
          "symbol": "GPR176",
          "ensemblId": "ENSG00000166073",
          "biotype": "protein_coding",
          "start": 39799003,
          "end": 39920976,
          "strand": "-",
          "slug": "gpr176"
        },
        {
          "symbol": "SRP14",
          "ensemblId": "ENSG00000140319",
          "biotype": "protein_coding",
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          "end": 40039186,
          "strand": "-",
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        },
        {
          "symbol": "BMF",
          "ensemblId": "ENSG00000104081",
          "biotype": "protein_coding",
          "start": 40087889,
          "end": 40108928,
          "strand": "-",
          "slug": "bmf"
        },
        {
          "symbol": "BUB1B",
          "ensemblId": "ENSG00000156970",
          "biotype": "protein_coding",
          "start": 40160984,
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          "strand": "+",
          "slug": "bub1b"
        },
        {
          "symbol": "PAK6",
          "ensemblId": "ENSG00000137843",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "pak6"
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        {
          "symbol": "BUB1B-PAK6",
          "ensemblId": "ENSG00000259288",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "bub1b-pak6"
        },
        {
          "symbol": "PLCB2",
          "ensemblId": "ENSG00000137841",
          "biotype": "protein_coding",
          "start": 40278176,
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          "strand": "-",
          "slug": "plcb2"
        },
        {
          "symbol": "ANKRD63",
          "ensemblId": "ENSG00000230778",
          "biotype": "protein_coding",
          "start": 40278372,
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          "strand": "-",
          "slug": "ankrd63"
        },
        {
          "symbol": "INAFM2",
          "ensemblId": "ENSG00000259330",
          "biotype": "protein_coding",
          "start": 40323692,
          "end": 40326715,
          "strand": "+",
          "slug": "inafm2"
        },
        {
          "symbol": "CCDC9B",
          "ensemblId": "ENSG00000188549",
          "biotype": "protein_coding",
          "start": 40331452,
          "end": 40340954,
          "strand": "-",
          "slug": "ccdc9b"
        },
        {
          "symbol": "PHGR1",
          "ensemblId": "ENSG00000233041",
          "biotype": "protein_coding",
          "start": 40351025,
          "end": 40357622,
          "strand": "+",
          "slug": "phgr1"
        },
        {
          "symbol": "DISP2",
          "ensemblId": "ENSG00000140323",
          "biotype": "protein_coding",
          "start": 40358219,
          "end": 40378621,
          "strand": "+",
          "slug": "disp2"
        },
        {
          "symbol": "KNSTRN",
          "ensemblId": "ENSG00000128944",
          "biotype": "protein_coding",
          "start": 40382721,
          "end": 40395659,
          "strand": "+",
          "slug": "knstrn"
        },
        {
          "symbol": "IVD",
          "ensemblId": "ENSG00000128928",
          "biotype": "protein_coding",
          "start": 40405485,
          "end": 40435956,
          "strand": "+",
          "slug": "ivd"
        },
        {
          "symbol": "BAHD1",
          "ensemblId": "ENSG00000140320",
          "biotype": "protein_coding",
          "start": 40436611,
          "end": 40468242,
          "strand": "+",
          "slug": "bahd1"
        },
        {
          "symbol": "CHST14",
          "ensemblId": "ENSG00000169105",
          "biotype": "protein_coding",
          "start": 40470984,
          "end": 40473158,
          "strand": "+",
          "slug": "chst14"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "heritable-pulmonary-arterial-hypertension-hpah",
        "name": "Erfelijke pulmonale arteriële hypertensie (HPAH)",
        "diseases": [
          {
            "mondoId": "MONDO:0018554",
            "name": "Pulmonaal veno-occlusieve ziekte en/of pulmonale capillaire hemangiomatose",
            "genes": 1,
            "inheritance": null,
            "description": "Een zeldzame vorm van pulmonale hypertensie, veroorzaakt door vernauwing van de kleine aders en haarvaten in de longen. Meestal wordt de ziekte veroorzaakt door veranderingen in EIF2AK4.",
            "management": "Het is belangrijk om hiervan op de hoogte te zijn, omdat sommige standaardmedicijnen tegen pulmonale hypertensie bij deze aandoening vocht op de longen kunnen veroorzaken. Mogelijk is een vroegtijdige verwijzing voor een beoordeling voor transplantatie nodig.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0009937",
            "name": "Pulmonaal veno-occlusieve ziekte",
            "genes": 2,
            "inheritance": null,
            "description": "Vernauwing of blokkade van de kleine aders in de longen die leidt tot pulmonale hypertensie. Erfelijke vormen worden veroorzaakt door veranderingen in BMPR2 of EIF2AK4.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/heritable-pulmonary-arterial-hypertension-hpah"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pulmonary-vein-morphology",
        "name": "Abnormal pulmonary vein morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-vein-morphology"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "capillary-malformation",
        "name": "Capillary malformation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/capillary-malformation"
      },
      {
        "slug": "centrilobular-ground-glass-opacification-on-pulmonary-hrct",
        "name": "Centrilobular ground-glass opacification on pulmonary HRCT",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/centrilobular-ground-glass-opacification-on-pulmonary-hrct"
      },
      {
        "slug": "chronic-fatigue",
        "name": "Chronic fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-fatigue"
      },
      {
        "slug": "clubbing-of-fingers",
        "name": "Clubbing of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clubbing-of-fingers"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "cytoplasmic-antineutrophil-antibody-positivity",
        "name": "Cytoplasmic antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/cytoplasmic-antineutrophil-antibody-positivity"
      },
      {
        "slug": "decreased-dlco",
        "name": "Decreased DLCO",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-dlco"
      },
      {
        "slug": "diffuse-alveolar-hemorrhage",
        "name": "Diffuse alveolar hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diffuse-alveolar-hemorrhage"
      },
      {
        "slug": "pulmonary-edema",
        "name": "Excess fluid in lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-edema"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "pedal-edema",
        "name": "Fluid accumulation in lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pedal-edema"
      },
      {
        "slug": "pericardial-effusion",
        "name": "Fluid around heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pericardial-effusion"
      },
      {
        "slug": "pleural-effusion",
        "name": "Fluid around lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pleural-effusion"
      },
      {
        "slug": "ground-glass-opacification",
        "name": "Ground-glass opacification",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ground-glass-opacification"
      },
      {
        "slug": "hemothorax",
        "name": "Hemothorax",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemothorax"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "elevated-pulmonary-artery-pressure",
        "name": "increased pulmonary artery pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-pulmonary-artery-pressure"
      },
      {
        "slug": "interlobular-septal-thickening",
        "name": "Interlobular septal thickening",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/interlobular-septal-thickening"
      },
      {
        "slug": "hypoxemia",
        "name": "Low blood oxygen level",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoxemia"
      },
      {
        "slug": "pulmonary-capillary-hemangiomatosis",
        "name": "Pulmonary capillary hemangiomatosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-capillary-hemangiomatosis"
      },
      {
        "slug": "pulmonary-venous-occlusion",
        "name": "Pulmonary venous occlusion",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-venous-occlusion"
      },
      {
        "slug": "right-ventricular-failure",
        "name": "Right ventricular failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/right-ventricular-failure"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "mediastinal-lymphadenopathy",
        "name": "Swollen lymph nodes in center of chest",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-thoracic-cavity"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mediastinal-lymphadenopathy"
      }
    ],
    "related": [
      {
        "slug": "bmpr2",
        "symbol": "BMPR2",
        "name": "bone morphogenetic protein receptor type 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bmpr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}