{
  "url": "https://dantelabs.com/de/genes/cacna1s",
  "gene": {
    "slug": "cacna1s",
    "symbol": "CACNA1S",
    "name": "calcium voltage-gated channel subunit alpha1 S",
    "hgnc": "HGNC:1397",
    "summary": null,
    "location": "1q32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "Cav1.1",
      "hypoPP"
    ],
    "previousSymbols": [
      "HOKPP",
      "MHS5",
      "CACNL1A3"
    ],
    "ensemblId": "ENSG00000081248",
    "entrezId": 779,
    "omim": [
      "114208"
    ],
    "uniprot": [
      "Q13698"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 201039512,
      "end": 201112426,
      "strand": "-",
      "ensemblTranscript": "ENST00000362061.4",
      "refseqTranscript": "NM_000069.3",
      "ensemblProtein": "ENSP00000355192.3",
      "refseqProtein": "NP_000060.2",
      "exons": [
        {
          "start": 201039512,
          "end": 201040082
        },
        {
          "start": 201040231,
          "end": 201040374
        },
        {
          "start": 201040622,
          "end": 201040713
        },
        {
          "start": 201041504,
          "end": 201041589
        },
        {
          "start": 201043281,
          "end": 201043531
        },
        {
          "start": 201044328,
          "end": 201044456
        },
        {
          "start": 201047115,
          "end": 201047239
        },
        {
          "start": 201047525,
          "end": 201047626
        },
        {
          "start": 201048582,
          "end": 201048684
        },
        {
          "start": 201049003,
          "end": 201049099
        },
        {
          "start": 201050389,
          "end": 201050516
        },
        {
          "start": 201050984,
          "end": 201051143
        },
        {
          "start": 201052557,
          "end": 201052648
        },
        {
          "start": 201053209,
          "end": 201053274
        },
        {
          "start": 201053459,
          "end": 201053587
        },
        {
          "start": 201054505,
          "end": 201054561
        },
        {
          "start": 201058408,
          "end": 201058491
        },
        {
          "start": 201059189,
          "end": 201059299
        },
        {
          "start": 201060658,
          "end": 201060816
        },
        {
          "start": 201061267,
          "end": 201061468
        },
        {
          "start": 201061944,
          "end": 201062090
        },
        {
          "start": 201062462,
          "end": 201062514
        },
        {
          "start": 201065838,
          "end": 201065945
        },
        {
          "start": 201066229,
          "end": 201066316
        },
        {
          "start": 201066887,
          "end": 201066993
        },
        {
          "start": 201069137,
          "end": 201069196
        },
        {
          "start": 201069472,
          "end": 201069601
        },
        {
          "start": 201070272,
          "end": 201070404
        },
        {
          "start": 201072755,
          "end": 201072824
        },
        {
          "start": 201073549,
          "end": 201073642
        },
        {
          "start": 201074506,
          "end": 201074620
        },
        {
          "start": 201075495,
          "end": 201075615
        },
        {
          "start": 201076920,
          "end": 201077127
        },
        {
          "start": 201077879,
          "end": 201078104
        },
        {
          "start": 201083162,
          "end": 201083322
        },
        {
          "start": 201084950,
          "end": 201085031
        },
        {
          "start": 201085436,
          "end": 201085581
        },
        {
          "start": 201087826,
          "end": 201087929
        },
        {
          "start": 201089258,
          "end": 201089463
        },
        {
          "start": 201091640,
          "end": 201091792
        },
        {
          "start": 201091972,
          "end": 201092114
        },
        {
          "start": 201093882,
          "end": 201094021
        },
        {
          "start": 201110164,
          "end": 201110269
        },
        {
          "start": 201112188,
          "end": 201112426
        }
      ],
      "cds": {
        "start": 201039831,
        "end": 201112339
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 201008642,
      "end": 201081694,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 200575969,
      "end": 201575968,
      "genes": [
        {
          "symbol": "KIF14",
          "ensemblId": "ENSG00000118193",
          "biotype": "protein_coding",
          "start": 200551497,
          "end": 200620776,
          "strand": "-",
          "slug": "kif14"
        },
        {
          "symbol": "DDX59",
          "ensemblId": "ENSG00000118197",
          "biotype": "protein_coding",
          "start": 200623896,
          "end": 200670049,
          "strand": "-",
          "slug": "ddx59"
        },
        {
          "symbol": "CAMSAP2",
          "ensemblId": "ENSG00000118200",
          "biotype": "protein_coding",
          "start": 200738885,
          "end": 200860751,
          "strand": "+",
          "slug": "camsap2"
        },
        {
          "symbol": "GPR25",
          "ensemblId": "ENSG00000170128",
          "biotype": "protein_coding",
          "start": 200872981,
          "end": 200874178,
          "strand": "+",
          "slug": "gpr25"
        },
        {
          "symbol": "INAVA",
          "ensemblId": "ENSG00000163362",
          "biotype": "protein_coding",
          "start": 200890995,
          "end": 200915742,
          "strand": "+",
          "slug": "inava"
        },
        {
          "symbol": "KIF21B",
          "ensemblId": "ENSG00000116852",
          "biotype": "protein_coding",
          "start": 200969390,
          "end": 201023726,
          "strand": "-",
          "slug": "kif21b"
        },
        {
          "symbol": "ASCL5",
          "ensemblId": "ENSG00000232237",
          "biotype": "protein_coding",
          "start": 201113943,
          "end": 201127184,
          "strand": "-",
          "slug": "ascl5"
        },
        {
          "symbol": "TMEM9",
          "ensemblId": "ENSG00000116857",
          "biotype": "protein_coding",
          "start": 201134772,
          "end": 201172330,
          "strand": "-",
          "slug": "tmem9"
        },
        {
          "symbol": "IGFN1",
          "ensemblId": "ENSG00000163395",
          "biotype": "protein_coding",
          "start": 201190824,
          "end": 201228952,
          "strand": "+",
          "slug": "igfn1"
        },
        {
          "symbol": "PKP1",
          "ensemblId": "ENSG00000081277",
          "biotype": "protein_coding",
          "start": 201283452,
          "end": 201332993,
          "strand": "+",
          "slug": "pkp1"
        },
        {
          "symbol": "TNNT2",
          "ensemblId": "ENSG00000118194",
          "biotype": "protein_coding",
          "start": 201356606,
          "end": 201379773,
          "strand": "-",
          "slug": "tnnt2"
        },
        {
          "symbol": "LAD1",
          "ensemblId": "ENSG00000159166",
          "biotype": "protein_coding",
          "start": 201380212,
          "end": 201399915,
          "strand": "-",
          "slug": "lad1"
        },
        {
          "symbol": "TNNI1",
          "ensemblId": "ENSG00000159173",
          "biotype": "protein_coding",
          "start": 201403784,
          "end": 201429866,
          "strand": "-",
          "slug": "tnni1"
        },
        {
          "symbol": "PHLDA3",
          "ensemblId": "ENSG00000174307",
          "biotype": "protein_coding",
          "start": 201463858,
          "end": 201469430,
          "strand": "-",
          "slug": "phlda3"
        },
        {
          "symbol": "CSRP1",
          "ensemblId": "ENSG00000159176",
          "biotype": "protein_coding",
          "start": 201483530,
          "end": 201540142,
          "strand": "-",
          "slug": "csrp1"
        },
        {
          "symbol": "NAV1",
          "ensemblId": "ENSG00000134369",
          "biotype": "protein_coding",
          "start": 201538946,
          "end": 201826969,
          "strand": "+",
          "slug": "nav1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-periodic-paralysis",
        "name": "Familiäre periodische Paralyse",
        "diseases": [
          {
            "mondoId": "MONDO:0016122",
            "name": "Periodische Paralyse",
            "genes": 3,
            "inheritance": "autosomal-dominant",
            "description": "Redaktioneller Hinweis: In ORDO als genetisch eingestuft, hier jedoch als neutral behandelt",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/familial-periodic-paralysis"
      },
      {
        "slug": "malignant-hyperthermia-susceptibility",
        "name": "Anfälligkeit für maligne Hyperthermie",
        "diseases": [
          {
            "mondoId": "MONDO:0800188",
            "name": "Anfälligkeit für maligne Hyperthermie",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "Eine erbliche Muskelerkrankung, die vor allem durch Veränderungen in RYR1 oder CACNA1S verursacht wird. Dabei können flüchtige Narkosegase oder Suxamethonium einen raschen Anstieg der Körpertemperatur, Muskelsteifheit und Muskelabbau auslösen.",
            "management": "Wenn Sie Ihren Anästhesisten informieren, kann eine nicht auslösende Narkose angewendet werden, die Reaktionen weitgehend verhindert. Auch Verwandte können gefährdet sein.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/malignant-hyperthermia-susceptibility"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-muscle-fiber-morphology",
        "name": "Abnormal muscle fiber morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-muscle-fiber-morphology"
      },
      {
        "slug": "abnormality-of-masseter-muscle",
        "name": "Abnormality of masseter muscle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-masseter-muscle"
      },
      {
        "slug": "abnormality-of-peripheral-nerve-conduction",
        "name": "Abnormality of peripheral nerve conduction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-peripheral-nerve-conduction"
      },
      {
        "slug": "abnormality-of-the-coagulation-cascade",
        "name": "Abnormality of the coagulation cascade",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-coagulation-cascade"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "acute-hepatic-failure",
        "name": "Acute liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-hepatic-failure"
      },
      {
        "slug": "acute-rhabdomyolysis",
        "name": "Acute rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-rhabdomyolysis"
      },
      {
        "slug": "adrenocortical-adenoma",
        "name": "Adrenocortical adenoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/adrenocortical-adenoma"
      },
      {
        "slug": "axial-muscle-weakness",
        "name": "Axial muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-muscle-weakness"
      },
      {
        "slug": "rhabdomyolysis",
        "name": "Breakdown of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rhabdomyolysis"
      },
      {
        "slug": "cardiomyocyte-mitochondrial-proliferation",
        "name": "Cardiomyocyte mitochondrial proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyocyte-mitochondrial-proliferation"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "decreased-urinary-potassium",
        "name": "Decreased urinary potassium",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-urinary-potassium"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-creatine-kinase-after-exercise",
        "name": "Elevated creatine kinase after exercise",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-creatine-kinase-after-exercise"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "episodic-flaccid-weakness",
        "name": "Episodic flaccid weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/episodic-flaccid-weakness"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "exercise-induced-muscle-fatigue",
        "name": "Exercise-induced muscle fatigue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-muscle-fatigue"
      },
      {
        "slug": "exercise-induced-rhabdomyolysis",
        "name": "Exercise-induced rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-induced-rhabdomyolysis"
      },
      {
        "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": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "fatigable-weakness-of-respiratory-muscles",
        "name": "Fatigable weakness of respiratory muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-respiratory-muscles"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "graves-disease",
        "name": "Graves disease",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/graves-disease"
      },
      {
        "slug": "hypercapnia",
        "name": "High blood carbon dioxide level",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercapnia"
      },
      {
        "slug": "hyperphosphatemia",
        "name": "High blood phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperphosphatemia"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "high-output-congestive-heart-failure",
        "name": "High-output congestive heart failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-output-congestive-heart-failure"
      },
      {
        "slug": "impaired-myocardial-contractility",
        "name": "Impaired myocardial contractility",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-myocardial-contractility"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "increased-endomysial-connective-tissue",
        "name": "Increased endomysial connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue"
      },
      {
        "slug": "increased-intramyocellular-lipid-droplets",
        "name": "Increased intramyocellular lipid droplets",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-intramyocellular-lipid-droplets"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "intermittent-painful-muscle-spasms",
        "name": "Intermittent painful muscle spasms",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intermittent-painful-muscle-spasms"
      },
      {
        "slug": "late-onset-proximal-muscle-weakness",
        "name": "Late-onset proximal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/late-onset-proximal-muscle-weakness"
      },
      {
        "slug": "hypomagnesemia",
        "name": "Low blood magnesium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypomagnesemia"
      },
      {
        "slug": "hypophosphatemia",
        "name": "Low blood phosphate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypophosphatemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "malignant-hyperthermia",
        "name": "Malignant hyperthermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malignant-hyperthermia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "mildly-elevated-creatine-kinase",
        "name": "Mildly elevated creatine kinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "myoglobinuria",
        "name": "Myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoglobinuria"
      },
      {
        "slug": "myotonia",
        "name": "Myotonia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myotonia"
      },
      {
        "slug": "necrotizing-myopathy",
        "name": "Necrotizing myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/necrotizing-myopathy"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "hyperthyroidism",
        "name": "Overactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperthyroidism"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "paralysis",
        "name": "Paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paralysis"
      },
      {
        "slug": "tetraplegia",
        "name": "Paralysis of all four limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tetraplegia"
      },
      {
        "slug": "periodic-hypokalemic-paresis",
        "name": "Periodic hypokalemic paresis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/periodic-hypokalemic-paresis"
      },
      {
        "slug": "periodic-paralysis",
        "name": "Periodic paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/periodic-paralysis"
      },
      {
        "slug": "postprandial-hyperglycemia",
        "name": "Postprandial hyperglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postprandial-hyperglycemia"
      },
      {
        "slug": "prolonged-qt-interval",
        "name": "Prolonged QT interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-qt-interval"
      },
      {
        "slug": "episodic-hypokalemia",
        "name": "Recurrent low potassium",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/episodic-hypokalemia"
      },
      {
        "slug": "respiratory-paralysis",
        "name": "Respiratory paralysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/respiratory-paralysis"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "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": "shortened-pr-interval",
        "name": "Shortened PR interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shortened-pr-interval"
      },
      {
        "slug": "supraventricular-tachycardia",
        "name": "Supraventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/supraventricular-tachycardia"
      },
      {
        "slug": "thyrotoxicosis-with-diffuse-goiter",
        "name": "Thyrotoxicosis with diffuse goiter",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thyrotoxicosis-with-diffuse-goiter"
      },
      {
        "slug": "thyrotoxicosis-with-toxic-multinodular-goiter",
        "name": "Thyrotoxicosis with toxic multinodular goiter",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thyrotoxicosis-with-toxic-multinodular-goiter"
      },
      {
        "slug": "thyrotoxicosis-with-toxic-single-thyroid-nodule",
        "name": "Thyrotoxicosis with toxic single thyroid nodule",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thyrotoxicosis-with-toxic-single-thyroid-nodule"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "urinary-retention",
        "name": "Urinary retention",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-retention"
      },
      {
        "slug": "ventricular-fibrillation",
        "name": "Ventricular fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-fibrillation"
      },
      {
        "slug": "ventricular-tachycardia",
        "name": "Ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-tachycardia"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "kcnj2",
        "symbol": "KCNJ2",
        "name": "potassium inwardly rectifying channel subfamily J member 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/kcnj2"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "name": "ryanodine receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ryr1"
      },
      {
        "slug": "scn4a",
        "symbol": "SCN4A",
        "name": "sodium voltage-gated channel alpha subunit 4",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/scn4a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 25,
    "url": "https://dantelabs.com/genes/cacna1s/variants",
    "items": [
      {
        "slug": "c-258plus2t-c",
        "name": "c.258+2T>C",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 201110162,
        "grch37Position": 201079290,
        "part": {
          "kind": "intron",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/c-258plus2t-c"
      },
      {
        "slug": "c-1233-1g-a",
        "name": "c.1233-1G>A",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 201083323,
        "grch37Position": 201052451,
        "part": {
          "kind": "intron",
          "number": 9
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/c-1233-1g-a"
      },
      {
        "slug": "c-3414plus3a-t",
        "name": "c.3414+3A>T",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 201060655,
        "grch37Position": 201029783,
        "part": {
          "kind": "intron",
          "number": 26
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/c-3414plus3a-t"
      },
      {
        "slug": "c-4113plus1g-a",
        "name": "c.4113+1G>A",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 201050983,
        "grch37Position": 201020111,
        "part": {
          "kind": "intron",
          "number": 33
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/c-4113plus1g-a"
      },
      {
        "slug": "c-4113plus1g-c",
        "name": "c.4113+1G>C",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 201050983,
        "grch37Position": 201020111,
        "part": {
          "kind": "intron",
          "number": 33
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/c-4113plus1g-c"
      },
      {
        "slug": "c-4543plus2t-c",
        "name": "c.4543+2T>C",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 201047523,
        "grch37Position": 201016651,
        "part": {
          "kind": "intron",
          "number": 37
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/c-4543plus2t-c"
      },
      {
        "slug": "c-4798-2a-g",
        "name": "c.4798-2A>G",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": null,
        "position": 201043533,
        "grch37Position": 201012661,
        "part": {
          "kind": "intron",
          "number": 39
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/c-4798-2a-g"
      },
      {
        "slug": "d1650ifs73",
        "name": "D1650Ifs*73",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.4947del",
        "position": 201043381,
        "grch37Position": 201012509,
        "part": {
          "kind": "exon",
          "number": 40
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/d1650ifs73"
      },
      {
        "slug": "e1348rfs76",
        "name": "E1348Rfs*76",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.4038del",
        "position": 201051058,
        "grch37Position": 201020186,
        "part": {
          "kind": "exon",
          "number": 33
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/e1348rfs76"
      },
      {
        "slug": "l938yfs26",
        "name": "L938Yfs*26",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2812del",
        "position": 201065878,
        "grch37Position": 201035006,
        "part": {
          "kind": "exon",
          "number": 22
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/l938yfs26"
      },
      {
        "slug": "l1656rfs67",
        "name": "L1656Rfs*67",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.4967del",
        "position": 201043361,
        "grch37Position": 201012489,
        "part": {
          "kind": "exon",
          "number": 40
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/l1656rfs67"
      },
      {
        "slug": "n468vfs6",
        "name": "N468Vfs*6",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.1401_1414del",
        "position": 201078083,
        "grch37Position": 201047211,
        "part": {
          "kind": "exon",
          "number": 11
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/n468vfs6"
      },
      {
        "slug": "r168x",
        "name": "R168X",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.502C>T",
        "position": 201092011,
        "grch37Position": 201061139,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r168x"
      },
      {
        "slug": "r412x",
        "name": "R412X",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.1234C>T",
        "position": 201083321,
        "grch37Position": 201052449,
        "part": {
          "kind": "exon",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r412x"
      },
      {
        "slug": "r528c",
        "name": "R528C",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.1582C>T",
        "position": 201077916,
        "grch37Position": 201047044,
        "part": {
          "kind": "exon",
          "number": 11
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r528c"
      },
      {
        "slug": "r528h",
        "name": "R528H",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.1583G>A",
        "position": 201077915,
        "grch37Position": 201047043,
        "part": {
          "kind": "exon",
          "number": 11
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r528h"
      },
      {
        "slug": "r528l",
        "name": "R528L",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.1583G>T",
        "position": 201077915,
        "grch37Position": 201047043,
        "part": {
          "kind": "exon",
          "number": 11
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r528l"
      },
      {
        "slug": "r757x",
        "name": "R757X",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2269C>T",
        "position": 201070363,
        "grch37Position": 201039491,
        "part": {
          "kind": "exon",
          "number": 17
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r757x"
      },
      {
        "slug": "r897t",
        "name": "R897T",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2690G>C",
        "position": 201066284,
        "grch37Position": 201035412,
        "part": {
          "kind": "exon",
          "number": 21
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r897t"
      },
      {
        "slug": "r903x",
        "name": "R903X",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.2707C>T",
        "position": 201066267,
        "grch37Position": 201035395,
        "part": {
          "kind": "exon",
          "number": 21
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r903x"
      },
      {
        "slug": "r1239g",
        "name": "R1239G",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.3715C>G",
        "position": 201053539,
        "grch37Position": 201022667,
        "part": {
          "kind": "exon",
          "number": 30
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r1239g"
      },
      {
        "slug": "r1239h",
        "name": "R1239H",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.3716G>A",
        "position": 201053538,
        "grch37Position": 201022666,
        "part": {
          "kind": "exon",
          "number": 30
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r1239h"
      },
      {
        "slug": "r1254x",
        "name": "R1254X",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.3760C>T",
        "position": 201053494,
        "grch37Position": 201022622,
        "part": {
          "kind": "exon",
          "number": 30
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/r1254x"
      },
      {
        "slug": "w300x",
        "name": "W300X",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic",
        "stars": 2,
        "hgvsC": "c.900G>A",
        "position": 201089258,
        "grch37Position": 201058386,
        "part": {
          "kind": "exon",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/w300x"
      },
      {
        "slug": "w616x",
        "name": "W616X",
        "commonName": null,
        "symbol": "CACNA1S",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "hgvsC": "c.1847G>A",
        "position": 201075596,
        "grch37Position": 201044724,
        "part": {
          "kind": "exon",
          "number": 13
        },
        "url": "https://dantelabs.com/genes/cacna1s/variants/w616x"
      }
    ]
  }
}