{
  "url": "https://dantelabs.com/hu/genes/prkg1",
  "gene": {
    "slug": "prkg1",
    "symbol": "PRKG1",
    "name": "protein kinase cGMP-dependent 1",
    "hgnc": "HGNC:9414",
    "summary": null,
    "location": "10q11.23-q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "PGK",
      "PKG",
      "PKG1"
    ],
    "previousSymbols": [
      "PRKGR1B",
      "PRKG1B"
    ],
    "ensemblId": "ENSG00000185532",
    "entrezId": 5592,
    "omim": [
      "176894"
    ],
    "uniprot": [
      "Q13976"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 51074487,
      "end": 52298350,
      "strand": "+",
      "ensemblTranscript": "ENST00000373980.11",
      "refseqTranscript": "NM_006258.4",
      "ensemblProtein": "ENSP00000363092.5",
      "refseqProtein": "NP_006249.1",
      "exons": [
        {
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      ],
      "cds": {
        "start": 51074591,
        "end": 52293900
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 52750945,
      "end": 54058110,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49850623,
      "end": 53522214,
      "genes": [
        {
          "symbol": "PARG",
          "ensemblId": "ENSG00000227345",
          "biotype": "protein_coding",
          "start": 49815132,
          "end": 49970203,
          "strand": "-",
          "slug": "parg"
        },
        {
          "symbol": "TIMM23B",
          "ensemblId": "ENSG00000204152",
          "biotype": "protein_coding",
          "start": 49942031,
          "end": 49977625,
          "strand": "+",
          "slug": "timm23b"
        },
        {
          "symbol": "TIMM23B-AGAP6",
          "ensemblId": "ENSG00000178440",
          "biotype": "protein_coding",
          "start": 49942056,
          "end": 50011654,
          "strand": "+",
          "slug": "timm23b-agap6"
        },
        {
          "symbol": "AGAP6",
          "ensemblId": "ENSG00000204149",
          "biotype": "protein_coding",
          "start": 49982190,
          "end": 50011654,
          "strand": "+",
          "slug": "agap6"
        },
        {
          "symbol": "WASHC2A",
          "ensemblId": "ENSG00000099290",
          "biotype": "protein_coding",
          "start": 50067881,
          "end": 50136578,
          "strand": "+",
          "slug": "washc2a"
        },
        {
          "symbol": "ASAH2",
          "ensemblId": "ENSG00000188611",
          "biotype": "protein_coding",
          "start": 50182778,
          "end": 50279720,
          "strand": "-",
          "slug": "asah2"
        },
        {
          "symbol": "SGMS1",
          "ensemblId": "ENSG00000198964",
          "biotype": "protein_coding",
          "start": 50305586,
          "end": 50625189,
          "strand": "-",
          "slug": "sgms1"
        },
        {
          "symbol": "ASAH2B",
          "ensemblId": "ENSG00000204147",
          "biotype": "protein_coding",
          "start": 50739318,
          "end": 50816495,
          "strand": "+",
          "slug": "asah2b"
        },
        {
          "symbol": "A1CF",
          "ensemblId": "ENSG00000148584",
          "biotype": "protein_coding",
          "start": 50799409,
          "end": 50885716,
          "strand": "-",
          "slug": "a1cf"
        },
        {
          "symbol": "CSTF2T",
          "ensemblId": "ENSG00000177613",
          "biotype": "protein_coding",
          "start": 51695486,
          "end": 51699595,
          "strand": "-",
          "slug": "cstf2t"
        },
        {
          "symbol": "DKK1",
          "ensemblId": "ENSG00000107984",
          "biotype": "protein_coding",
          "start": 52314274,
          "end": 52318042,
          "strand": "+",
          "slug": "dkk1"
        },
        {
          "symbol": "MBL2",
          "ensemblId": "ENSG00000165471",
          "biotype": "protein_coding",
          "start": 52758075,
          "end": 52773009,
          "strand": "-",
          "slug": "mbl2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "aortic-aneurysm",
        "name": "Aortic Aneurysm",
        "diseases": [
          {
            "mondoId": "MONDO:0019625",
            "name": "Familial Thoracic Aortic Aneurysm and Dissection",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Inherited widening and tearing of the thoracic aorta, caused by changes in genes such as ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 and THSD4.",
            "management": "Knowing about it supports regular aortic imaging, blood pressure control and timely preventive surgery, and screening of relatives.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 12
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/aortic-aneurysm"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-aortic-aneurysm",
        "name": "Abdominal aortic aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-aortic-aneurysm"
      },
      {
        "slug": "abnormal-left-ventricular-function",
        "name": "Abnormal left ventricular function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function"
      },
      {
        "slug": "abnormality-of-connective-tissue",
        "name": "Abnormality of connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-connective-tissue"
      },
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      },
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "ascending-aortic-dissection",
        "name": "Ascending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascending-aortic-dissection"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "carotid-artery-dilatation",
        "name": "Carotid artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carotid-artery-dilatation"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "coronary-artery-aneurysm",
        "name": "Coronary artery aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/coronary-artery-aneurysm"
      },
      {
        "slug": "coronary-artery-dissection",
        "name": "Coronary artery dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/coronary-artery-dissection"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "hypovolemia",
        "name": "Depleted blood volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypovolemia"
      },
      {
        "slug": "descending-aortic-dissection",
        "name": "Descending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/descending-aortic-dissection"
      },
      {
        "slug": "descending-thoracic-aorta-aneurysm",
        "name": "Descending thoracic aorta aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/descending-thoracic-aorta-aneurysm"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "dural-ectasia",
        "name": "Dural ectasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dural-ectasia"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "ischemic-stroke",
        "name": "Ischemic stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ischemic-stroke"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transient-ischemic-attack"
      },
      {
        "slug": "mucoid-extracellular-matrix-accumulation",
        "name": "Mucoid extracellular matrix accumulation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mucoid-extracellular-matrix-accumulation"
      },
      {
        "slug": "paroxysmal-dyspnea",
        "name": "Paroxysmal dyspnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-dyspnea"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "peripheral-arterial-stenosis",
        "name": "Peripheral arterial stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-arterial-stenosis"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "subarachnoid-hemorrhage",
        "name": "Subarachnoid hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "aortic-dissection",
        "name": "Tear in inner wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-dissection"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "name": "actin alpha 2, smooth muscle",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acta2"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "name": "fibrillin 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fbn1"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "name": "forkhead box E3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/foxe3"
      },
      {
        "slug": "lox",
        "symbol": "LOX",
        "name": "lysyl oxidase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lox"
      },
      {
        "slug": "mfap5",
        "symbol": "MFAP5",
        "name": "microfibril associated protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mfap5"
      },
      {
        "slug": "myh11",
        "symbol": "MYH11",
        "name": "myosin heavy chain 11",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/myh11"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "name": "myosin light chain kinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mylk"
      },
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "name": "transforming growth factor beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tgfb2"
      },
      {
        "slug": "tgfbr1",
        "symbol": "TGFBR1",
        "name": "transforming growth factor beta receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tgfbr1"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "name": "transforming growth factor beta receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tgfbr2"
      },
      {
        "slug": "thsd4",
        "symbol": "THSD4",
        "name": "thrombospondin type 1 domain containing 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/thsd4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}