{
  "url": "https://dantelabs.com/it/genes/cdh2",
  "gene": {
    "slug": "cdh2",
    "symbol": "CDH2",
    "name": "cadherin 2",
    "hgnc": "HGNC:1759",
    "summary": null,
    "location": "18q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "CDHN",
      "CD325"
    ],
    "previousSymbols": [
      "NCAD"
    ],
    "ensemblId": "ENSG00000170558",
    "entrezId": 1000,
    "omim": [
      "114020"
    ],
    "uniprot": [
      "P19022"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 27950966,
      "end": 28177130,
      "strand": "-",
      "ensemblTranscript": "ENST00000269141.8",
      "refseqTranscript": "NM_001792.5",
      "ensemblProtein": "ENSP00000269141.3",
      "refseqProtein": "NP_001783.2",
      "exons": [
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        {
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      ],
      "cds": {
        "start": 27952153,
        "end": 28177022
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 25530930,
      "end": 25757410,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 27564048,
      "end": 28564047,
      "genes": [],
      "truncated": false
    },
    "reports": [
      {
        "slug": "arrhythmogenic-cardiomyopathy",
        "name": "Cardiomiopatia aritmogena",
        "diseases": [
          {
            "mondoId": "MONDO:0016587",
            "name": "Cardiomiopatia aritmogena del ventricolo destro (ARVC)",
            "genes": 10,
            "inheritance": null,
            "description": "Progressiva sostituzione del muscolo cardiaco con tessuto adiposo e cicatriziale, principalmente nel ventricolo destro, che causa aritmie ventricolari; di solito è causata da varianti nei geni dei desmosomi PKP2, DSP, DSG2, DSC2 e JUP, oppure in TMEM43, PLN o DES.",
            "management": "Una diagnosi comporta il monitoraggio regolare del ritmo cardiaco, indicazioni sulla limitazione dell'esercizio di resistenza, decisioni sull'eventuale impianto di defibrillatori e il test dei familiari.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/arrhythmogenic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "supernumerary-nipple",
        "name": "Accessory nipple",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supernumerary-nipple"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "delayed-fine-motor-development",
        "name": "Delayed fine motor development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-fine-motor-development"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "enlarged-cisterna-magna",
        "name": "Enlarged cisterna magna",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enlarged-cisterna-magna"
      },
      {
        "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": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "auditory-hallucination",
        "name": "Hallucinations of sound",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/auditory-hallucination"
      },
      {
        "slug": "bimanual-synkinesia",
        "name": "Hand mirror movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bimanual-synkinesia"
      },
      {
        "slug": "dextrocardia",
        "name": "Heart tip and four chambers point towards right side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dextrocardia"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "sprengel-anomaly",
        "name": "High shoulder blade",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sprengel-anomaly"
      },
      {
        "slug": "atrioventricular-canal-defect",
        "name": "Hole in center of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrioventricular-canal-defect"
      },
      {
        "slug": "impulsivity",
        "name": "Impulsivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "interhemispheric-cyst",
        "name": "Interhemispheric cyst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/interhemispheric-cyst"
      },
      {
        "slug": "interhypothalamic-adhesion",
        "name": "Interhypothalamic adhesion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/interhypothalamic-adhesion"
      },
      {
        "slug": "left-bundle-branch-block",
        "name": "Left bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/left-bundle-branch-block"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-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": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "synophrys",
        "name": "Monobrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/synophrys"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "periventricular-heterotopia",
        "name": "Periventricular heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periventricular-heterotopia"
      },
      {
        "slug": "peters-anomaly",
        "name": "Peters anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peters-anomaly"
      },
      {
        "slug": "pointed-chin",
        "name": "Pointed chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pointed-chin"
      },
      {
        "slug": "presyncope",
        "name": "Presyncope",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/presyncope"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "right-ventricular-dilatation",
        "name": "Right ventricular dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/right-ventricular-dilatation"
      },
      {
        "slug": "self-injurious-behavior",
        "name": "Self-injurious behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/self-injurious-behavior"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "smooth-philtrum",
        "name": "Smooth philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/smooth-philtrum"
      },
      {
        "slug": "thickened-helices",
        "name": "Thickened helices",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickened-helices"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "ventricular-tachycardia",
        "name": "Ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-tachycardia"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/des"
      },
      {
        "slug": "dsc2",
        "symbol": "DSC2",
        "name": "desmocollin 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dsc2"
      },
      {
        "slug": "dsg2",
        "symbol": "DSG2",
        "name": "desmoglein 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dsg2"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dsp"
      },
      {
        "slug": "jup",
        "symbol": "JUP",
        "name": "junction plakoglobin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/jup"
      },
      {
        "slug": "pkp2",
        "symbol": "PKP2",
        "name": "plakophilin 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/pkp2"
      },
      {
        "slug": "pln",
        "symbol": "PLN",
        "name": "phospholamban",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/pln"
      },
      {
        "slug": "ryr2",
        "symbol": "RYR2",
        "name": "ryanodine receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ryr2"
      },
      {
        "slug": "tmem43",
        "symbol": "TMEM43",
        "name": "transmembrane protein 43",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/tmem43"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-e609d43e",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}