{
  "url": "https://dantelabs.com/cs/genes/pcdh15",
  "gene": {
    "slug": "pcdh15",
    "symbol": "PCDH15",
    "name": "protocadherin related 15",
    "hgnc": "HGNC:14674",
    "summary": null,
    "location": "10q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "CDHR15"
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    "previousSymbols": [
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      "DFNB23"
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    "ensemblId": "ENSG00000150275",
    "entrezId": 65217,
    "omim": [
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    "uniprot": [
      "Q96QU1"
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      "release": "v1.5",
      "chrom": "10",
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      "strand": "-",
      "ensemblTranscript": "ENST00000644397.2",
      "refseqTranscript": "NM_001384140.1",
      "ensemblProtein": "ENSP00000495195.1",
      "refseqProtein": "NP_001371069.1",
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 55562531,
      "end": 57387702,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 52804310,
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      "genes": [],
      "truncated": false
    },
    "reports": [
      {
        "slug": "usher-syndrome",
        "name": "Usher Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0019501",
            "name": "Usher Syndrome",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "A group of recessive conditions (types 1 to 4) causing sensorineural hearing loss, progressive retinitis pigmentosa and, in some types, balance problems, linked to genes such as USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 and ARSG.",
            "management": "An early diagnosis helps with decisions about the timing of cochlear implants, eye monitoring and eligibility for retinal therapy trials, and is relevant to carrier screening.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/usher-syndrome"
      },
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Hearing Loss and Deafness",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Nonsyndromic Genetic Hearing Loss",
            "genes": 97,
            "inheritance": null,
            "description": "Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.",
            "management": "Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cochlea-morphology",
        "name": "Abnormal cochlea morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cochlea-morphology"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-vestibular-function",
        "name": "Abnormal vestibular function",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-vestibular-function"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "scotoma",
        "name": "Blind spot",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scotoma"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "impaired-tandem-gait",
        "name": "Clumsy tandem walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-tandem-gait"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/cdh23"
      },
      {
        "slug": "myo7a",
        "symbol": "MYO7A",
        "name": "myosin VIIA",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/myo7a"
      },
      {
        "slug": "ush1c",
        "symbol": "USH1C",
        "name": "USH1 protein network component harmonin",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/ush1c"
      },
      {
        "slug": "whrn",
        "symbol": "WHRN",
        "name": "whirlin",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/whrn"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/actg1"
      },
      {
        "slug": "adgrv1",
        "symbol": "ADGRV1",
        "name": "adhesion G protein-coupled receptor V1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/adgrv1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aifm1"
      },
      {
        "slug": "arsg",
        "symbol": "ARSG",
        "name": "arylsulfatase G",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arsg"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cabp2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}