{
  "url": "https://dantelabs.com/el/genes/cacna1d",
  "gene": {
    "slug": "cacna1d",
    "symbol": "CACNA1D",
    "name": "calcium voltage-gated channel subunit alpha1 D",
    "hgnc": "HGNC:1391",
    "summary": null,
    "location": "3p21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "Cav1.3",
      "CACH3",
      "CACN4"
    ],
    "previousSymbols": [
      "CCHL1A2",
      "CACNL1A2"
    ],
    "ensemblId": "ENSG00000157388",
    "entrezId": 776,
    "omim": [
      "114206"
    ],
    "uniprot": [
      "Q01668"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 53494611,
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      "strand": "+",
      "ensemblTranscript": "ENST00000350061.11",
      "refseqTranscript": "NM_001128840.3",
      "ensemblProtein": "ENSP00000288133.5",
      "refseqProtein": "NP_001122312.1",
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      ],
      "cds": {
        "start": 53495167,
        "end": 53811406
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 53528683,
      "end": 53847760,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 53154172,
      "end": 54154171,
      "genes": [
        {
          "symbol": "PRKCD",
          "ensemblId": "ENSG00000163932",
          "biotype": "protein_coding",
          "start": 53156009,
          "end": 53192717,
          "strand": "+",
          "slug": "prkcd"
        },
        {
          "symbol": "TKT",
          "ensemblId": "ENSG00000163931",
          "biotype": "protein_coding",
          "start": 53223040,
          "end": 53256055,
          "strand": "-",
          "slug": "tkt"
        },
        {
          "symbol": "DCP1A",
          "ensemblId": "ENSG00000272886",
          "biotype": "protein_coding",
          "start": 53283429,
          "end": 53347683,
          "strand": "-",
          "slug": "dcp1a"
        },
        {
          "symbol": "CHDH",
          "ensemblId": "ENSG00000016391",
          "biotype": "protein_coding",
          "start": 53812335,
          "end": 53846468,
          "strand": "-",
          "slug": "chdh"
        },
        {
          "symbol": "IL17RB",
          "ensemblId": "ENSG00000056736",
          "biotype": "protein_coding",
          "start": 53845673,
          "end": 53873463,
          "strand": "+",
          "slug": "il17rb"
        },
        {
          "symbol": "ACTR8",
          "ensemblId": "ENSG00000113812",
          "biotype": "protein_coding",
          "start": 53863038,
          "end": 53882202,
          "strand": "-",
          "slug": "actr8"
        },
        {
          "symbol": "SELENOK",
          "ensemblId": "ENSG00000113811",
          "biotype": "protein_coding",
          "start": 53883496,
          "end": 53891885,
          "strand": "-",
          "slug": "selenok"
        },
        {
          "symbol": "CACNA2D3",
          "ensemblId": "ENSG00000157445",
          "biotype": "protein_coding",
          "start": 54122127,
          "end": 55074557,
          "strand": "+",
          "slug": "cacna2d3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cardiac-conduction-disease-sick-sinus-syndrome",
        "name": "Progressive Καρδιακή Αγωγής Νόσος & Σύνδρομο Νοσούντος Κόλπου",
        "diseases": [
          {
            "mondoId": "MONDO:0013960",
            "name": "Δυσλειτουργία Κόλπου και Κώφωση",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Πάθηση που προκαλείται από μεταβολές στο CACNA1D και συνδυάζει συγγενή σοβαρή απώλεια ακοής με πολύ βραδύ καρδιακό ρυθμό ηρεμίας.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/cardiac-conduction-disease-sick-sinus-syndrome"
      },
      {
        "slug": "monogenic-hypertension-mineralocorticoid-disorders",
        "name": "Μονογονιδιακή υπέρταση και διαταραχές μεταλλοκορτικοειδών",
        "diseases": [
          {
            "mondoId": "MONDO:0016525",
            "name": "Οικογενής υπεραλδοστερονισμός",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Ομάδα παθήσεων, μεταξύ των οποίων η αλδοστερονισμός ανταποκρινόμενος σε γλυκοκορτικοειδή (CYP11B1/CYP11B2) και μορφές που οφείλονται σε CLCN2, KCNJ5 ή CACNA1H, κατά τις οποίες οι επινεφρίδιοι παράγουν υπερβολική αλδοστερόνη, προκαλώντας υψηλή αρτηριακή πίεση.",
            "management": "Η γνώση αυτής της πάθησης καθοδηγεί τη θεραπεία (δεξαμεθαζόνη για τον αλδοστερονισμό ανταποκρινόμενο σε γλυκοκορτικοειδή, φάρμακα που αναστέλλουν την αλδοστερόνη γενικότερα) και υποστηρίζει τον έλεγχο των συγγενών.",
            "evidence": {
              "gencc": [
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/monogenic-hypertension-mineralocorticoid-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-renin-concentration",
        "name": "Abnormal circulating renin",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-circulating-renin-concentration"
      },
      {
        "slug": "biventricular-hypertrophy",
        "name": "Biventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/biventricular-hypertrophy"
      },
      {
        "slug": "intracranial-hemorrhage",
        "name": "Bleeding within the skull",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intracranial-hemorrhage"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "caesarean-section",
        "name": "Caesarean section",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/caesarean-section"
      },
      {
        "slug": "cerebral-palsy",
        "name": "Cerebral palsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-palsy"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "decreased-circulating-renin-concentration",
        "name": "Decreased circulating renin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-renin-concentration"
      },
      {
        "slug": "dexamethasone-suppressible-primary-hyperaldosteronism",
        "name": "Dexamethasone-suppressible primary hyperaldosteronism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/dexamethasone-suppressible-primary-hyperaldosteronism"
      },
      {
        "slug": "increased-circulating-aldosterone-concentration",
        "name": "Elevated plasma aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "emg-impaired-neuromuscular-transmission",
        "name": "EMG: impaired neuromuscular transmission",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-impaired-neuromuscular-transmission"
      },
      {
        "slug": "adrenal-hyperplasia",
        "name": "Enlarged adrenal glands",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/adrenal-hyperplasia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "focal-myoclonic-seizure",
        "name": "Focal myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-myoclonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "increased-heart-rate-variability",
        "name": "Increased heart rate variability",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-heart-rate-variability"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "metabolic-alkalosis",
        "name": "Metabolic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metabolic-alkalosis"
      },
      {
        "slug": "myoclonic-seizure",
        "name": "Myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "primary-hyperaldosteronism",
        "name": "Primary hyperaldosteronism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/primary-hyperaldosteronism"
      },
      {
        "slug": "tinnitus",
        "name": "Ringing in ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tinnitus"
      },
      {
        "slug": "second-degree-atrioventricular-block",
        "name": "Second degree atrioventricular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/second-degree-atrioventricular-block"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "ventricular-hypertrophy",
        "name": "Ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ventricular-hypertrophy"
      }
    ],
    "related": [
      {
        "slug": "cacna1h",
        "symbol": "CACNA1H",
        "name": "calcium voltage-gated channel subunit alpha1 H",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cacna1h"
      },
      {
        "slug": "cyp11b1",
        "symbol": "CYP11B1",
        "name": "cytochrome P450 family 11 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cyp11b1"
      },
      {
        "slug": "kcnj5",
        "symbol": "KCNJ5",
        "name": "potassium inwardly rectifying channel subfamily J member 5",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kcnj5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}