{
  "url": "https://dantelabs.com/lt/genes/sox17",
  "gene": {
    "slug": "sox17",
    "symbol": "SOX17",
    "name": "SRY-box transcription factor 17",
    "hgnc": "HGNC:18122",
    "summary": null,
    "location": "8q11.23",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000164736",
    "entrezId": 64321,
    "omim": [
      "610928"
    ],
    "uniprot": [
      "Q9H6I2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 54457935,
      "end": 54460892,
      "strand": "+",
      "ensemblTranscript": "ENST00000297316.5",
      "refseqTranscript": "NM_022454.4",
      "ensemblProtein": "ENSP00000297316.4",
      "refseqProtein": "NP_071899.1",
      "exons": [
        {
          "start": 54457935,
          "end": 54458445
        },
        {
          "start": 54459058,
          "end": 54460892
        }
      ],
      "cds": {
        "start": 54458139,
        "end": 54459995
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 55370495,
      "end": 55373448,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 53959414,
      "end": 54959413,
      "genes": [
        {
          "symbol": "TCEA1",
          "ensemblId": "ENSG00000187735",
          "biotype": "protein_coding",
          "start": 53966552,
          "end": 54022508,
          "strand": "-",
          "slug": "tcea1"
        },
        {
          "symbol": "LYPLA1",
          "ensemblId": "ENSG00000120992",
          "biotype": "protein_coding",
          "start": 54046367,
          "end": 54102035,
          "strand": "-",
          "slug": "lypla1"
        },
        {
          "symbol": "MRPL15",
          "ensemblId": "ENSG00000137547",
          "biotype": "protein_coding",
          "start": 54135183,
          "end": 54149588,
          "strand": "+",
          "slug": "mrpl15"
        },
        {
          "symbol": "RP1",
          "ensemblId": "ENSG00000104237",
          "biotype": "protein_coding",
          "start": 54509422,
          "end": 54871720,
          "strand": "+",
          "slug": "rp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-anomalies-kidney-urinary-tract",
        "name": "Vrođene anomalije bubrega i mokraćnog trakta",
        "diseases": [
          {
            "mondoId": "MONDO:0006007",
            "name": "Vezikoureterni refluks",
            "genes": 2,
            "inheritance": null,
            "description": "Povratni tok mokraće iz mjehura prema bubrezima, koji se može javljati u obiteljima i povećava rizik od infekcije bubrega i ožiljkavanja.",
            "management": "Saznanje može potaknuti ranију procjenu mokraćnih infekcija kod osobe i njezine djece.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/congenital-anomalies-kidney-urinary-tract"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "bronchial-artery-dilatation",
        "name": "Bronchial artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchial-artery-dilatation"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "chest-tightness",
        "name": "Chest tightness",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chest-tightness"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "chronic-pulmonary-obstruction",
        "name": "Chronic pulmonary obstruction",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-pulmonary-obstruction"
      },
      {
        "slug": "complete-right-bundle-branch-block",
        "name": "Complete right bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "decreased-dlco",
        "name": "Decreased DLCO",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-dlco"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "grade-iii-vesicoureteral-reflux",
        "name": "Grade III vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/grade-iii-vesicoureteral-reflux"
      },
      {
        "slug": "grade-iv-vesicoureteral-reflux",
        "name": "Grade IV vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/grade-iv-vesicoureteral-reflux"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "hypercoagulability",
        "name": "Hypercoagulability",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercoagulability"
      },
      {
        "slug": "incomplete-right-bundle-branch-block",
        "name": "Incomplete right bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/incomplete-right-bundle-branch-block"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "increased-pulmonary-vascular-resistance",
        "name": "Increased pulmonary vascular resistance",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-pulmonary-vascular-resistance"
      },
      {
        "slug": "interrupted-inferior-vena-cava-with-azygous-continuation",
        "name": "Interrupted inferior vena cava with azygous continuation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/interrupted-inferior-vena-cava-with-azygous-continuation"
      },
      {
        "slug": "juvenile-idiopathic-arthritis",
        "name": "Juvenile idiopathic arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/juvenile-idiopathic-arthritis"
      },
      {
        "slug": "left-isomerism",
        "name": "Left Isomerism",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-isomerism"
      },
      {
        "slug": "left-ventricular-systolic-dysfunction",
        "name": "Left ventricular systolic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction"
      },
      {
        "slug": "hypoxemia",
        "name": "Low blood oxygen level",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoxemia"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "persistent-patent-ductus-venosus",
        "name": "Persistent patent ductus venosus",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/persistent-patent-ductus-venosus"
      },
      {
        "slug": "pulmonary-arterial-hypertension-with-lack-of-acute-response-to-no-challenge",
        "name": "Pulmonary arterial hypertension with lack of acute response to NO challenge",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension-with-lack-of-acute-response-to-no-challenge"
      },
      {
        "slug": "pulmonary-arterial-hypertension-with-positive-acute-response-to-no-challenge",
        "name": "Pulmonary arterial hypertension with positive acute response to NO challenge",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension-with-positive-acute-response-to-no-challenge"
      },
      {
        "slug": "atrial-fibrillation",
        "name": "Quivering upper heart chambers resulting in irregular heartbeat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atrial-fibrillation"
      },
      {
        "slug": "reduced-systolic-function",
        "name": "Reduced systolic function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-systolic-function"
      },
      {
        "slug": "right-atrial-enlargement",
        "name": "Right atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/right-atrial-enlargement"
      },
      {
        "slug": "right-axis-deviation",
        "name": "Right axis deviation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/right-axis-deviation"
      },
      {
        "slug": "right-ventricular-dilatation",
        "name": "Right ventricular dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/right-ventricular-dilatation"
      },
      {
        "slug": "right-ventricular-hypertrophy",
        "name": "Right ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "unusual-bronchiolitis",
        "name": "Unusual bronchiolitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/unusual-bronchiolitis"
      },
      {
        "slug": "ureter-duplex",
        "name": "Ureter duplex",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ureter-duplex"
      },
      {
        "slug": "ureteropelvic-junction-obstruction",
        "name": "Ureteropelvic junction obstruction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ureteropelvic-junction-obstruction"
      }
    ],
    "related": [
      {
        "slug": "robo2",
        "symbol": "ROBO2",
        "name": "roundabout guidance receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/robo2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}