{
  "url": "https://dantelabs.com/pt/genes/alpk3",
  "gene": {
    "slug": "alpk3",
    "symbol": "ALPK3",
    "name": "alpha kinase 3",
    "hgnc": "HGNC:17574",
    "summary": null,
    "location": "15q25.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MAK",
      "KIAA1330",
      "Midori"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000136383",
    "entrezId": 57538,
    "omim": [
      "617608"
    ],
    "uniprot": [
      "Q96L96"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 84817356,
      "end": 84873479,
      "strand": "+",
      "ensemblTranscript": "ENST00000258888.6",
      "refseqTranscript": "NM_020778.5",
      "ensemblProtein": "ENSP00000258888.6",
      "refseqProtein": "NP_065829.4",
      "exons": [
        {
          "start": 84817356,
          "end": 84817595
        },
        {
          "start": 84823330,
          "end": 84823368
        },
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        },
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        },
        {
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        },
        {
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        },
        {
          "start": 84859243,
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        },
        {
          "start": 84859776,
          "end": 84859903
        },
        {
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        },
        {
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        },
        {
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        },
        {
          "start": 84864442,
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        },
        {
          "start": 84867317,
          "end": 84867365
        },
        {
          "start": 84868111,
          "end": 84873479
        }
      ],
      "cds": {
        "start": 84817453,
        "end": 84868456
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 85359911,
      "end": 85416713,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 84345418,
      "end": 85345417,
      "genes": [
        {
          "symbol": "ZSCAN2",
          "ensemblId": "ENSG00000176371",
          "biotype": "protein_coding",
          "start": 84600986,
          "end": 84627796,
          "strand": "+",
          "slug": "zscan2"
        },
        {
          "symbol": "WDR73",
          "ensemblId": "ENSG00000177082",
          "biotype": "protein_coding",
          "start": 84639283,
          "end": 84654343,
          "strand": "-",
          "slug": "wdr73"
        },
        {
          "symbol": "NMB",
          "ensemblId": "ENSG00000197696",
          "biotype": "protein_coding",
          "start": 84655129,
          "end": 84661271,
          "strand": "-",
          "slug": "nmb"
        },
        {
          "symbol": "SEC11A",
          "ensemblId": "ENSG00000140612",
          "biotype": "protein_coding",
          "start": 84669529,
          "end": 84716466,
          "strand": "-",
          "slug": "sec11a"
        },
        {
          "symbol": "ZNF592",
          "ensemblId": "ENSG00000166716",
          "biotype": "protein_coding",
          "start": 84748348,
          "end": 84806445,
          "strand": "+",
          "slug": "znf592"
        },
        {
          "symbol": "SLC28A1",
          "ensemblId": "ENSG00000156222",
          "biotype": "protein_coding",
          "start": 84884569,
          "end": 84975691,
          "strand": "+",
          "slug": "slc28a1"
        },
        {
          "symbol": "PDE8A",
          "ensemblId": "ENSG00000073417",
          "biotype": "protein_coding",
          "start": 84980440,
          "end": 85139244,
          "strand": "+",
          "slug": "pde8a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Miocardiopatia Hipertrófica",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Miocardiopatia Hipertrófica",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "Doença em que o miocárdio está hipertrofiado sem uma causa evidente. A hipertrofia é, em geral, assimétrica e pode estar associada à obstrução da via de saída ventricular.",
            "management": "Betabloqueantes, bloqueadores dos canais de cálcio não di-hidropiridínicos, restrição da atividade física, aconselhamento genético",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "biventricular-hypertrophy",
        "name": "Biventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/biventricular-hypertrophy"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "hallux-valgus",
        "name": "Bunion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hallux-valgus"
      },
      {
        "slug": "cardiomyocyte-hypertrophy",
        "name": "Cardiomyocyte hypertrophy",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomyocyte-hypertrophy"
      },
      {
        "slug": "central-core-regions-in-muscle-fibers",
        "name": "Central core regions in muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-core-regions-in-muscle-fibers"
      },
      {
        "slug": "chiari-malformation",
        "name": "Chiari malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chiari-malformation"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "concentric-hypertrophic-cardiomyopathy",
        "name": "Concentric hypertrophic cardiomyopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/concentric-hypertrophic-cardiomyopathy"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "clinodactyly-of-the-2nd-finger",
        "name": "Curvature of index finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-2nd-finger"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "distal-arthrogryposis",
        "name": "Distal arthrogryposis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-arthrogryposis"
      },
      {
        "slug": "elbow-contracture",
        "name": "Elbow contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elbow-contracture"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "exodeviation",
        "name": "Exodeviation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exodeviation"
      },
      {
        "slug": "premature-ventricular-contraction",
        "name": "Extra heart beat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-ventricular-contraction"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "syringomyelia",
        "name": "Fluid-filled cyst in spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/syringomyelia"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "impaired-myocardial-contractility",
        "name": "Impaired myocardial contractility",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-myocardial-contractility"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "left-atrial-enlargement",
        "name": "Left atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-atrial-enlargement"
      },
      {
        "slug": "left-ventricular-diastolic-dysfunction",
        "name": "Left ventricular diastolic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-diastolic-dysfunction"
      },
      {
        "slug": "left-ventricular-dilatation",
        "name": "Left ventricular dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-dilatation"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "limited-elbow-extension",
        "name": "Limited elbow extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limited-elbow-extension"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hepatic-cysts",
        "name": "Liver cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-cysts"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mildly-reduced-left-ventricular-ejection-fraction",
        "name": "Mildly reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mildly-reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "hemivertebrae",
        "name": "Missing part of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemivertebrae"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "moderately-reduced-left-ventricular-ejection-fraction",
        "name": "Moderately reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/moderately-reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "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": "overlapping-toe",
        "name": "Overlapping toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/overlapping-toe"
      },
      {
        "slug": "paroxysmal-ventricular-tachycardia",
        "name": "Paroxysmal ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paroxysmal-ventricular-tachycardia"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "persistent-left-superior-vena-cava",
        "name": "Persistent left superior vena cava",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/persistent-left-superior-vena-cava"
      },
      {
        "slug": "prolonged-pr-interval",
        "name": "Prolonged PR interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-pr-interval"
      },
      {
        "slug": "prolonged-qrs-complex",
        "name": "Prolonged QRS complex",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-qrs-complex"
      },
      {
        "slug": "prolonged-qtc-interval",
        "name": "Prolonged QTc interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-qtc-interval"
      },
      {
        "slug": "right-atrial-enlargement",
        "name": "Right atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/right-atrial-enlargement"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy"
      },
      {
        "slug": "second-degree-atrioventricular-block",
        "name": "Second degree atrioventricular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/second-degree-atrioventricular-block"
      },
      {
        "slug": "severely-reduced-left-ventricular-ejection-fraction",
        "name": "Severely reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severely-reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thumb",
        "name": "Short thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-thumb"
      },
      {
        "slug": "shortened-pr-interval",
        "name": "Shortened PR interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shortened-pr-interval"
      },
      {
        "slug": "shoulder-contracture",
        "name": "Shoulder contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shoulder-contracture"
      },
      {
        "slug": "sinus-bradycardia",
        "name": "Sinus bradycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sinus-bradycardia"
      },
      {
        "slug": "sinus-tachycardia",
        "name": "Sinus tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sinus-tachycardia"
      },
      {
        "slug": "laryngomalacia",
        "name": "Softening of voice box tissue",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/laryngomalacia"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "spondylolysis",
        "name": "Spondylolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spondylolysis"
      },
      {
        "slug": "stiff-knee",
        "name": "Stiff knee",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stiff-knee"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "sub-rpe-deposits",
        "name": "Sub-RPE deposits",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sub-rpe-deposits"
      },
      {
        "slug": "submucous-cleft-palate",
        "name": "Submucous cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/submucous-cleft-palate"
      },
      {
        "slug": "ankyloglossia",
        "name": "Tongue tied",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankyloglossia"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      },
      {
        "slug": "ventricular-fibrillation",
        "name": "Ventricular fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-fibrillation"
      },
      {
        "slug": "ventricular-septal-hypertrophy",
        "name": "Ventricular septal hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy"
      },
      {
        "slug": "webbed-neck",
        "name": "Webbed neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/webbed-neck"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wide-intermamillary-distance",
        "name": "Wide-spaced nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-intermamillary-distance"
      }
    ],
    "related": [
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/acadvl"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/actc1"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/braf"
      },
      {
        "slug": "cdkn1c",
        "symbol": "CDKN1C",
        "name": "cyclin dependent kinase inhibitor 1C",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/cdkn1c"
      },
      {
        "slug": "csrp3",
        "symbol": "CSRP3",
        "name": "cysteine and glycine rich protein 3",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/csrp3"
      },
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dhh"
      },
      {
        "slug": "dhx37",
        "symbol": "DHX37",
        "name": "DEAH-box helicase 37",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dhx37"
      },
      {
        "slug": "dmpk",
        "symbol": "DMPK",
        "name": "DM1 protein kinase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dmpk"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/erf"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "name": "electron transfer flavoprotein dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/etfdh"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}