{
  "url": "https://dantelabs.com/fi/genes/casq2",
  "gene": {
    "slug": "casq2",
    "symbol": "CASQ2",
    "name": "calsequestrin 2",
    "hgnc": "HGNC:1513",
    "summary": null,
    "location": "1p13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "PDIB2"
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    "previousSymbols": [],
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    "entrezId": 845,
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    "uniprot": [
      "O14958"
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      "release": "v1.5",
      "chrom": "1",
      "start": 115700021,
      "end": 115768714,
      "strand": "-",
      "ensemblTranscript": "ENST00000261448.6",
      "refseqTranscript": "NM_001232.4",
      "ensemblProtein": "ENSP00000261448.5",
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
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      "end": 116311402,
      "strand": "-"
    },
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      "genes": [
        {
          "symbol": "NGF",
          "ensemblId": "ENSG00000134259",
          "biotype": "protein_coding",
          "start": 115285904,
          "end": 115338770,
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        {
          "symbol": "VANGL1",
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          "end": 115698224,
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        {
          "symbol": "NHLH2",
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        {
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        {
          "symbol": "MAB21L3",
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          "end": 116138149,
          "strand": "+",
          "slug": "mab21l3"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "catecholaminergic-polymorphic-ventricular-tachycardia",
        "name": "Katekolaminergisesti indusoitu polymorfinen kammiotakykardia",
        "diseases": [
          {
            "mondoId": "MONDO:0008648",
            "name": "Familiaalinen kammiotakykardia",
            "genes": 7,
            "inheritance": null,
            "description": "Kammiotakykardian muoto, joka johtuu yksilön perimän periytyvästä muutoksesta.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 12
            },
            "sameAsReport": false,
            "broad": false
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          {
            "mondoId": "MONDO:0020575",
            "name": "Polymorfinen kammiotakykardia",
            "genes": 7,
            "inheritance": null,
            "description": "Kammiotakykardia, jonka syke ja rytmi ovat epäsäännöllisiä.",
            "management": null,
            "evidence": {
              "gencc": [
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                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 12
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/catecholaminergic-polymorphic-ventricular-tachycardia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "atrial-standstill",
        "name": "Atrial standstill",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-standstill"
      },
      {
        "slug": "bidirectional-ventricular-tachycardia",
        "name": "Bidirectional ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bidirectional-ventricular-tachycardia"
      },
      {
        "slug": "effort-induced-polymorphic-ventricular-tachycardia",
        "name": "Effort-induced polymorphic ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/effort-induced-polymorphic-ventricular-tachycardia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "atrioventricular-block",
        "name": "Interruption of electrical communication between upper and lower chambers of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrioventricular-block"
      },
      {
        "slug": "paroxysmal-atrial-fibrillation",
        "name": "Paroxysmal atrial fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-atrial-fibrillation"
      },
      {
        "slug": "polymorphic-ventricular-tachycardia",
        "name": "Polymorphic ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polymorphic-ventricular-tachycardia"
      },
      {
        "slug": "reduced-systolic-function",
        "name": "Reduced systolic function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-systolic-function"
      },
      {
        "slug": "sick-sinus-syndrome",
        "name": "Sick sinus syndrome",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sick-sinus-syndrome"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      },
      {
        "slug": "sudden-death",
        "name": "Sudden death",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/sudden-death"
      },
      {
        "slug": "ventricular-couplet",
        "name": "Ventricular couplet",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-couplet"
      },
      {
        "slug": "ventricular-tachycardia",
        "name": "Ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-tachycardia"
      }
    ],
    "related": [
      {
        "slug": "calm1",
        "symbol": "CALM1",
        "name": "calmodulin 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/calm1"
      },
      {
        "slug": "calm2",
        "symbol": "CALM2",
        "name": "calmodulin 2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/calm2"
      },
      {
        "slug": "calm3",
        "symbol": "CALM3",
        "name": "calmodulin 3",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/calm3"
      },
      {
        "slug": "ryr2",
        "symbol": "RYR2",
        "name": "ryanodine receptor 2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ryr2"
      },
      {
        "slug": "tecrl",
        "symbol": "TECRL",
        "name": "trans-2,3-enoyl-CoA reductase like",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/tecrl"
      },
      {
        "slug": "trdn",
        "symbol": "TRDN",
        "name": "triadin",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/trdn"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 15,
    "url": "https://dantelabs.com/genes/casq2/variants",
    "items": [
      {
        "slug": "c-320-2a-g",
        "name": "c.320-2A>G",
        "commonName": null,
        "symbol": "CASQ2",
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        "position": 115740830,
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        "url": "https://dantelabs.com/genes/casq2/variants/c-320-2a-g"
      },
      {
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        "symbol": "CASQ2",
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        "url": "https://dantelabs.com/genes/casq2/variants/c-381c-t"
      },
      {
        "slug": "c-737plus1g-a",
        "name": "c.737+1G>A",
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        },
        "url": "https://dantelabs.com/genes/casq2/variants/c-737plus1g-a"
      },
      {
        "slug": "c-939plus1g-t",
        "name": "c.939+1G>T",
        "commonName": null,
        "symbol": "CASQ2",
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        "position": 115705191,
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          "number": 9
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        "url": "https://dantelabs.com/genes/casq2/variants/c-939plus1g-t"
      },
      {
        "slug": "c-939plus5g-c",
        "name": "c.939+5G>C",
        "commonName": null,
        "symbol": "CASQ2",
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        "position": 115705187,
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        "url": "https://dantelabs.com/genes/casq2/variants/c-939plus5g-c"
      },
      {
        "slug": "c-940-1g-t",
        "name": "c.940-1G>T",
        "commonName": null,
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        "url": "https://dantelabs.com/genes/casq2/variants/c-940-1g-t"
      },
      {
        "slug": "d340x",
        "name": "D340X",
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        "symbol": "CASQ2",
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        "url": "https://dantelabs.com/genes/casq2/variants/d340x"
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      {
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        "url": "https://dantelabs.com/genes/casq2/variants/f182lfs28"
      },
      {
        "slug": "p308l",
        "name": "P308L",
        "commonName": null,
        "symbol": "CASQ2",
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        "url": "https://dantelabs.com/genes/casq2/variants/p308l"
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      {
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        "name": "Q71Hfs*2",
        "commonName": null,
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        "url": "https://dantelabs.com/genes/casq2/variants/q71hfs2"
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      {
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        "url": "https://dantelabs.com/genes/casq2/variants/r33q"
      },
      {
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        "commonName": null,
        "symbol": "CASQ2",
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        "url": "https://dantelabs.com/genes/casq2/variants/r33x"
      },
      {
        "slug": "w261x",
        "name": "W261X",
        "commonName": null,
        "symbol": "CASQ2",
        "classification": "likely-pathogenic",
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        "position": 115725508,
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        },
        "url": "https://dantelabs.com/genes/casq2/variants/w261x"
      },
      {
        "slug": "y55c",
        "name": "Y55C",
        "commonName": null,
        "symbol": "CASQ2",
        "classification": "pathogenic-likely-pathogenic",
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        "hgvsC": "c.164A>G",
        "position": 115768378,
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        "part": {
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        },
        "url": "https://dantelabs.com/genes/casq2/variants/y55c"
      },
      {
        "slug": "y192x",
        "name": "Y192X",
        "commonName": null,
        "symbol": "CASQ2",
        "classification": "pathogenic-likely-pathogenic",
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        "hgvsC": "c.576C>A",
        "position": 115732931,
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        },
        "url": "https://dantelabs.com/genes/casq2/variants/y192x"
      }
    ]
  }
}