{
  "url": "https://dantelabs.com/genes/whrn",
  "gene": {
    "slug": "whrn",
    "symbol": "WHRN",
    "name": "whirlin",
    "hgnc": "HGNC:16361",
    "summary": null,
    "location": "9q32",
    "locusType": "gene with protein product",
    "aliases": [
      "CIP98",
      "USH2D",
      "PDZD7B"
    ],
    "previousSymbols": [
      "DFNB31"
    ],
    "ensemblId": "ENSG00000095397",
    "entrezId": 25861,
    "omim": [
      "607928"
    ],
    "uniprot": [
      "Q9P202"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 114402080,
      "end": 114505473,
      "strand": "-",
      "ensemblTranscript": "ENST00000362057.4",
      "refseqTranscript": "NM_015404.4",
      "ensemblProtein": "ENSP00000354623.3",
      "refseqProtein": "NP_056219.3",
      "exons": [
        {
          "start": 114402080,
          "end": 114402936
        },
        {
          "start": 114403217,
          "end": 114403339
        },
        {
          "start": 114403896,
          "end": 114404077
        },
        {
          "start": 114406355,
          "end": 114406892
        },
        {
          "start": 114407947,
          "end": 114408018
        },
        {
          "start": 114423314,
          "end": 114423523
        },
        {
          "start": 114424334,
          "end": 114424546
        },
        {
          "start": 114424988,
          "end": 114425024
        },
        {
          "start": 114426211,
          "end": 114426413
        },
        {
          "start": 114466267,
          "end": 114466392
        },
        {
          "start": 114478553,
          "end": 114478771
        },
        {
          "start": 114504184,
          "end": 114505473
        }
      ],
      "cds": {
        "start": 114402754,
        "end": 114504801
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 117164360,
      "end": 117267730,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 113953777,
      "end": 114953776,
      "genes": [
        {
          "symbol": "ZNF618",
          "ensemblId": "ENSG00000157657",
          "biotype": "protein_coding",
          "start": 113876052,
          "end": 114056593,
          "strand": "+",
          "slug": "znf618"
        },
        {
          "symbol": "AMBP",
          "ensemblId": "ENSG00000106927",
          "biotype": "protein_coding",
          "start": 114060127,
          "end": 114080970,
          "strand": "-",
          "slug": "ambp"
        },
        {
          "symbol": "KIF12",
          "ensemblId": "ENSG00000136883",
          "biotype": "protein_coding",
          "start": 114086126,
          "end": 114099370,
          "strand": "-",
          "slug": "kif12"
        },
        {
          "symbol": "COL27A1",
          "ensemblId": "ENSG00000196739",
          "biotype": "protein_coding",
          "start": 114155486,
          "end": 114312511,
          "strand": "+",
          "slug": "col27a1"
        },
        {
          "symbol": "ORM1",
          "ensemblId": "ENSG00000229314",
          "biotype": "protein_coding",
          "start": 114322951,
          "end": 114326970,
          "strand": "+",
          "slug": "orm1"
        },
        {
          "symbol": "ORM2",
          "ensemblId": "ENSG00000228278",
          "biotype": "protein_coding",
          "start": 114329777,
          "end": 114333741,
          "strand": "+",
          "slug": "orm2"
        },
        {
          "symbol": "AKNA",
          "ensemblId": "ENSG00000106948",
          "biotype": "protein_coding",
          "start": 114334156,
          "end": 114394405,
          "strand": "-",
          "slug": "akna"
        },
        {
          "symbol": "ATP6V1G1",
          "ensemblId": "ENSG00000136888",
          "biotype": "protein_coding",
          "start": 114587572,
          "end": 114598915,
          "strand": "+",
          "slug": "atp6v1g1"
        },
        {
          "symbol": "TMEM268",
          "ensemblId": "ENSG00000157693",
          "biotype": "protein_coding",
          "start": 114611206,
          "end": 114646422,
          "strand": "+",
          "slug": "tmem268"
        },
        {
          "symbol": "TEX53",
          "ensemblId": "ENSG00000230054",
          "biotype": "protein_coding",
          "start": 114656302,
          "end": 114662374,
          "strand": "-",
          "slug": "tex53"
        },
        {
          "symbol": "TEX48",
          "ensemblId": "ENSG00000230601",
          "biotype": "protein_coding",
          "start": 114666434,
          "end": 114682192,
          "strand": "-",
          "slug": "tex48"
        },
        {
          "symbol": "TNFSF15",
          "ensemblId": "ENSG00000181634",
          "biotype": "protein_coding",
          "start": 114784652,
          "end": 114806094,
          "strand": "-",
          "slug": "tnfsf15"
        },
        {
          "symbol": "TNFSF8",
          "ensemblId": "ENSG00000106952",
          "biotype": "protein_coding",
          "start": 114893343,
          "end": 114930596,
          "strand": "-",
          "slug": "tnfsf8"
        }
      ],
      "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": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/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)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "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-rare",
        "url": "https://dantelabs.com/traits/abnormal-vestibular-function"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "abnormality-of-the-inner-ear",
        "name": "Abnormality of the inner ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-inner-ear"
      },
      {
        "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": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "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": "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": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "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": "reduced-contrast-sensitivity",
        "name": "Reduced contrast sensitivity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-contrast-sensitivity"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "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/genes/cdh23"
      },
      {
        "slug": "myo7a",
        "symbol": "MYO7A",
        "name": "myosin VIIA",
        "shared": 2,
        "url": "https://dantelabs.com/genes/myo7a"
      },
      {
        "slug": "pcdh15",
        "symbol": "PCDH15",
        "name": "protocadherin related 15",
        "shared": 2,
        "url": "https://dantelabs.com/genes/pcdh15"
      },
      {
        "slug": "ush1c",
        "symbol": "USH1C",
        "name": "USH1 protein network component harmonin",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ush1c"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/actg1"
      },
      {
        "slug": "adgrv1",
        "symbol": "ADGRV1",
        "name": "adhesion G protein-coupled receptor V1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/adgrv1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/aifm1"
      },
      {
        "slug": "arsg",
        "symbol": "ARSG",
        "name": "arylsulfatase G",
        "shared": 1,
        "url": "https://dantelabs.com/genes/arsg"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/genes/cabp2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}