{
  "url": "https://dantelabs.com/it/genes/cldn10",
  "gene": {
    "slug": "cldn10",
    "symbol": "CLDN10",
    "name": "claudin 10",
    "hgnc": "HGNC:2033",
    "summary": null,
    "location": "13q32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "OSP-L",
      "CPETRL3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000134873",
    "entrezId": 9071,
    "omim": [
      "617579"
    ],
    "uniprot": [
      "P78369"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 95552720,
      "end": 95579759,
      "strand": "+",
      "ensemblTranscript": "ENST00000299339.3",
      "refseqTranscript": "NM_006984.5",
      "ensemblProtein": "ENSP00000299339.2",
      "refseqProtein": "NP_008915.1",
      "exons": [
        {
          "start": 95552720,
          "end": 95552973
        },
        {
          "start": 95560132,
          "end": 95560293
        },
        {
          "start": 95560382,
          "end": 95560463
        },
        {
          "start": 95577231,
          "end": 95577338
        },
        {
          "start": 95577900,
          "end": 95579759
        }
      ],
      "cds": {
        "start": 95552754,
        "end": 95578014
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 96085858,
      "end": 96232013,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 95066240,
      "end": 96066239,
      "genes": [
        {
          "symbol": "ABCC4",
          "ensemblId": "ENSG00000125257",
          "biotype": "protein_coding",
          "start": 95019831,
          "end": 95301822,
          "strand": "-",
          "slug": "abcc4"
        },
        {
          "symbol": "DZIP1",
          "ensemblId": "ENSG00000134874",
          "biotype": "protein_coding",
          "start": 95578202,
          "end": 95644740,
          "strand": "-",
          "slug": "dzip1"
        },
        {
          "symbol": "DNAJC3",
          "ensemblId": "ENSG00000102580",
          "biotype": "protein_coding",
          "start": 95676600,
          "end": 95794988,
          "strand": "+",
          "slug": "dnajc3"
        },
        {
          "symbol": "UGGT2",
          "ensemblId": "ENSG00000102595",
          "biotype": "protein_coding",
          "start": 95801580,
          "end": 96053482,
          "strand": "-",
          "slug": "uggt2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-hypomagnesemia",
        "name": "Ipomagnesiemia familiare",
        "diseases": [
          {
            "mondoId": "MONDO:0060564",
            "name": "Sindrome HELIX",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Un disturbo recessivo legato a CLDN10 con ridotta sudorazione, secchezza di occhi e bocca e perdita renale di sali con elevati livelli di magnesio nel sangue.",
            "management": "La conoscenza di questa condizione chiarisce i reperti elettrolitici e orienta le cure di supporto.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/familial-hypomagnesemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "alacrima",
        "name": "Absence of tears in the eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alacrima"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "xerostomia",
        "name": "Decreased salivary flow",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/xerostomia"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "hyperparathyroidism",
        "name": "Elevated blood parathyroid hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperparathyroidism"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "hypermagnesemia",
        "name": "High blood magnesium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypermagnesemia"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "anhidrosis",
        "name": "Lack of sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anhidrosis"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypocalciuria",
        "name": "Low urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypocalciuria"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}