{
  "url": "https://dantelabs.com/ko/genes/gjb2",
  "gene": {
    "slug": "gjb2",
    "symbol": "GJB2",
    "name": "gap junction protein beta 2",
    "hgnc": "HGNC:4284",
    "summary": null,
    "location": "13q12.11",
    "locusType": "gene with protein product",
    "aliases": [
      "CX26",
      "NSRD1"
    ],
    "previousSymbols": [
      "DFNB1",
      "DFNA3"
    ],
    "ensemblId": "ENSG00000165474",
    "entrezId": 2706,
    "omim": [
      "121011"
    ],
    "uniprot": [
      "P29033"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 20187470,
      "end": 20192938,
      "strand": "-",
      "ensemblTranscript": "ENST00000382848.5",
      "refseqTranscript": "NM_004004.6",
      "ensemblProtein": "ENSP00000372299.4",
      "refseqProtein": "NP_003995.2",
      "exons": [
        {
          "start": 20187470,
          "end": 20189603
        },
        {
          "start": 20192783,
          "end": 20192938
        }
      ],
      "cds": {
        "start": 20188901,
        "end": 20189581
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 20761609,
      "end": 20767037,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 19690204,
      "end": 20690203,
      "genes": [
        {
          "symbol": "PSPC1",
          "ensemblId": "ENSG00000121390",
          "biotype": "protein_coding",
          "start": 19568249,
          "end": 19783019,
          "strand": "-",
          "slug": "pspc1"
        },
        {
          "symbol": "ZMYM5",
          "ensemblId": "ENSG00000132950",
          "biotype": "protein_coding",
          "start": 19823482,
          "end": 19864935,
          "strand": "-",
          "slug": "zmym5"
        },
        {
          "symbol": "ZMYM2",
          "ensemblId": "ENSG00000121741",
          "biotype": "protein_coding",
          "start": 19958673,
          "end": 20091856,
          "strand": "+",
          "slug": "zmym2"
        },
        {
          "symbol": "GJA3",
          "ensemblId": "ENSG00000121743",
          "biotype": "protein_coding",
          "start": 20138252,
          "end": 20161615,
          "strand": "-",
          "slug": "gja3"
        },
        {
          "symbol": "GJB6",
          "ensemblId": "ENSG00000121742",
          "biotype": "protein_coding",
          "start": 20221962,
          "end": 20232450,
          "strand": "-",
          "slug": "gjb6"
        },
        {
          "symbol": "CRYL1",
          "ensemblId": "ENSG00000165475",
          "biotype": "protein_coding",
          "start": 20403666,
          "end": 20525893,
          "strand": "-",
          "slug": "cryl1"
        },
        {
          "symbol": "IFT88",
          "ensemblId": "ENSG00000032742",
          "biotype": "protein_coding",
          "start": 20566600,
          "end": 20691697,
          "strand": "+",
          "slug": "ift88"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "청력 손실과 난청",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "상염색체 우성 비증후군성 청력 손실",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "비증후군성 난청의 상염색체 우성 유형입니다.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "비증후군성 유전성 청력 손실",
            "genes": 97,
            "inheritance": null,
            "description": "다른 의학적 특징 없이 나타나는 유전성 청력 손실로, GJB2, OTOF, SLC26A4, STRC 및 기타 여러 유전자에 의해 발생하는 흔한 열성 유형과 우성, X연관 및 미토콘드리아 유형을 포함합니다.",
            "management": "유전적 원인을 알면 청력 지원 및 인공와우 이식 결정, 유전자 치료 임상시험 참여 자격(예: OTOF), 가족 상담에 도움이 될 수 있습니다.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/hearing-loss-and-deafness"
      },
      {
        "slug": "hereditary-palmoplantar-keratodermas",
        "name": "유전성 수장족저각화증 및 선천성 조갑비후증",
        "diseases": [
          {
            "mondoId": "MONDO:0019272",
            "name": "유전성 수장족저각화증",
            "genes": 35,
            "inheritance": null,
            "description": "손바닥과 발바닥이 유전적으로 두꺼워지는 질환으로, 선천성 조갑비후증, 메다 병(mal de Meleda), 나가시마형 및 보스니아형 각화증, 각화증-어린선-난청 증후군, 그리고 CTSC 관련 파필론-르페브르 증후군과 하임-뭉크 증후군이 포함됩니다.",
            "management": "진단 결과는 발 관리와 통증 관리에 도움이 됩니다. CTSC 관련 유형의 경우 조기 치과 치료로 치아를 보호할 수 있으며, GJB2 관련 유형은 청력 검사를 받아 보시는 것이 좋습니다.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/hereditary-palmoplantar-keratodermas"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-vestibular-function",
        "name": "Abnormal vestibular function",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-vestibular-function"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "abnormal-spinal-cord-morphology",
        "name": "Abnormality of the spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-spinal-cord-morphology"
      },
      {
        "slug": "abnormal-toenail-morphology",
        "name": "Abnormality of the toenail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-toenail-morphology"
      },
      {
        "slug": "absent-axillary-hair",
        "name": "Absent axillary hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-axillary-hair"
      },
      {
        "slug": "absent-eyelashes",
        "name": "Absent eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/absent-eyelashes"
      },
      {
        "slug": "absent-pubic-hair",
        "name": "Absent pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-pubic-hair"
      },
      {
        "slug": "aplastic-hypoplastic-lacrimal-glands",
        "name": "Absent/underdeveloped tear glands",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplastic-hypoplastic-lacrimal-glands"
      },
      {
        "slug": "acne-inversa",
        "name": "Acne inversa",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/acne-inversa"
      },
      {
        "slug": "amniotic-constriction-ring",
        "name": "Amniotic constriction ring",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/amniotic-constriction-ring"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "autoamputation-of-digits",
        "name": "Autoamputation of digits",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/autoamputation-of-digits"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cobblestone-like-hyperkeratosis",
        "name": "Cobblestone-like hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cobblestone-like-hyperkeratosis"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "congenital-ichthyosiform-erythroderma",
        "name": "Congenital ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-ichthyosiform-erythroderma"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment"
      },
      {
        "slug": "keratitis",
        "name": "Corneal inflammation",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/keratitis"
      },
      {
        "slug": "corneal-scarring",
        "name": "Corneal scarring",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/corneal-scarring"
      },
      {
        "slug": "corneal-ulceration",
        "name": "Corneal ulceration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-ulceration"
      },
      {
        "slug": "coxa-valga",
        "name": "Coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/coxa-valga"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "delayed-pubic-bone-ossification",
        "name": "Delayed maturation of pubic bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/delayed-pubic-bone-ossification"
      },
      {
        "slug": "keratoconjunctivitis-sicca",
        "name": "Dry eye syndrome",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "equinus-calcaneus",
        "name": "Equinus calcaneus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/equinus-calcaneus"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "follicular-hyperkeratosis",
        "name": "Follicular hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/follicular-hyperkeratosis"
      },
      {
        "slug": "folliculitis",
        "name": "Folliculitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/folliculitis"
      },
      {
        "slug": "furrowed-tongue",
        "name": "Grooved tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/furrowed-tongue"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "scarring-alopecia-of-scalp",
        "name": "Hair loss on scalp from scarring condition",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "honeycomb-palmoplantar-hyperkeratosis",
        "name": "Honeycomb palmoplantar hyperkeratosis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/honeycomb-palmoplantar-hyperkeratosis"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hyperkeratotic-papule",
        "name": "Hyperkeratotic papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperkeratotic-papule"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "angular-cheilitis",
        "name": "Inflammation of corners of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/angular-cheilitis"
      },
      {
        "slug": "trichiasis",
        "name": "Ingrown eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/trichiasis"
      },
      {
        "slug": "knee-pain",
        "name": "Knee pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/knee-pain"
      },
      {
        "slug": "knuckle-pad",
        "name": "Knuckle pad",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/knuckle-pad"
      },
      {
        "slug": "limbal-stem-cell-deficiency",
        "name": "Limbal stem cell deficiency",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limbal-stem-cell-deficiency"
      },
      {
        "slug": "lip-fissure",
        "name": "Lip fissure",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lip-fissure"
      },
      {
        "slug": "mixed-hearing-impairment",
        "name": "Mixed hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mixed-hearing-impairment"
      },
      {
        "slug": "neoplasm-of-the-tongue",
        "name": "Neoplasm of the tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-tongue"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "corneal-neovascularization",
        "name": "New blood vessel formation in cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-neovascularization"
      },
      {
        "slug": "oral-leukoplakia",
        "name": "Oral white patch",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/oral-leukoplakia"
      },
      {
        "slug": "papule",
        "name": "Papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/papule"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "posterior-blepharitis",
        "name": "Posterior blepharitis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posterior-blepharitis"
      },
      {
        "slug": "prelingual-sensorineural-hearing-impairment",
        "name": "Prelingual sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prelingual-sensorineural-hearing-impairment"
      },
      {
        "slug": "progeroid-facial-appearance",
        "name": "Premature aged appearance",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progeroid-facial-appearance"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "psoriasiform-dermatitis",
        "name": "Psoriasiform dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psoriasiform-dermatitis"
      },
      {
        "slug": "punctate-keratitis",
        "name": "Punctate keratitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/punctate-keratitis"
      },
      {
        "slug": "recurrent-bacterial-skin-infections",
        "name": "Recurrent bacterial skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-skin-infections"
      },
      {
        "slug": "recurrent-corneal-erosions",
        "name": "Recurrent breakdown of clear protective layer of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/recurrent-corneal-erosions"
      },
      {
        "slug": "recurrent-candida-infection",
        "name": "Recurrent Candida infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-candida-infection"
      },
      {
        "slug": "recurrent-cutaneous-abscess-formation",
        "name": "Recurrent cutaneous abscess formation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-cutaneous-abscess-formation"
      },
      {
        "slug": "recurrent-cutaneous-fungal-infections",
        "name": "Recurrent cutaneous fungal infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-cutaneous-fungal-infections"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "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": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-sensorineural-hearing-impairment",
        "name": "Severe sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-sensorineural-hearing-impairment"
      },
      {
        "slug": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "skin-nodule",
        "name": "Skin nodule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/skin-nodule"
      },
      {
        "slug": "skin-plaque",
        "name": "Skin plaque",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-plaque"
      },
      {
        "slug": "patellar-hypoplasia",
        "name": "Small kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/patellar-hypoplasia"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "squamous-cell-carcinoma",
        "name": "Squamous cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/squamous-cell-carcinoma"
      },
      {
        "slug": "onychogryphosis",
        "name": "Thick nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/onychogryphosis"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "palmoplantar-hyperkeratosis",
        "name": "Thickening of the outer layer of the skin of the palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      },
      {
        "slug": "trichilemmoma",
        "name": "Trichilemmoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/trichilemmoma"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "leukonychia",
        "name": "White discoloration of nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukonychia"
      }
    ],
    "related": [
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 3,
        "url": "https://dantelabs.com/ko/genes/gjb6"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/ko/genes/grhl2"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/ceacam16"
      },
      {
        "slug": "coch",
        "symbol": "COCH",
        "name": "cochlin",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/coch"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/col11a2"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/diaph1"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/eya4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 22,
    "url": "https://dantelabs.com/genes/gjb2/variants",
    "items": [
      {
        "slug": "c--22-2a-c",
        "name": "c.-22-2A>C",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 20189605,
        "grch37Position": 20763744,
        "part": {
          "kind": "intron",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/c--22-2a-c"
      },
      {
        "slug": "c-1a-g",
        "name": "c.1A>G",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 20189581,
        "grch37Position": 20763720,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/c-1a-g"
      },
      {
        "slug": "c-1a-t",
        "name": "c.1A>T",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 20189581,
        "grch37Position": 20763720,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/c-1a-t"
      },
      {
        "slug": "c-2t-c",
        "name": "c.2T>C",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 20189580,
        "grch37Position": 20763719,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/c-2t-c"
      },
      {
        "slug": "c-2t-g",
        "name": "c.2T>G",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 20189580,
        "grch37Position": 20763719,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/c-2t-g"
      },
      {
        "slug": "c-3g-a",
        "name": "c.3G>A",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 20189579,
        "grch37Position": 20763718,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/c-3g-a"
      },
      {
        "slug": "e47k",
        "name": "E47K",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.139G>A",
        "position": 20189443,
        "grch37Position": 20763582,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/e47k"
      },
      {
        "slug": "g12c",
        "name": "G12C",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.34G>T",
        "position": 20189548,
        "grch37Position": 20763687,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/g12c"
      },
      {
        "slug": "g12vfs2",
        "name": "G12Vfs*2",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.35del",
        "position": 20189546,
        "grch37Position": 20763685,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/g12vfs2"
      },
      {
        "slug": "k188r",
        "name": "K188R",
        "commonName": null,
        "symbol": "GJB2",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.563A>G",
        "position": 20189019,
        "grch37Position": 20763158,
        "part": {
          "kind": "exon",
          "number": 2
        },
        "url": "https://dantelabs.com/genes/gjb2/variants/k188r"
      },
      {
        "slug": "l56rfs26",
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}