{
  "url": "https://dantelabs.com/hu/genes/pax6",
  "gene": {
    "slug": "pax6",
    "symbol": "PAX6",
    "name": "paired box 6",
    "hgnc": "HGNC:8620",
    "summary": null,
    "location": "11p13",
    "locusType": "gene with protein product",
    "aliases": [
      "D11S812E",
      "AN",
      "WAGR"
    ],
    "previousSymbols": [
      "AN1",
      "AN2"
    ],
    "ensemblId": "ENSG00000007372",
    "entrezId": 5080,
    "omim": [
      "607108"
    ],
    "uniprot": [
      "P26367"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 31789026,
      "end": 31811322,
      "strand": "-",
      "ensemblTranscript": "ENST00000640368.2",
      "refseqTranscript": "NM_001368894.2",
      "ensemblProtein": "ENSP00000492024.1",
      "refseqProtein": "NP_001355823.1",
      "exons": [
        {
          "start": 31789026,
          "end": 31790019
        },
        {
          "start": 31790710,
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        {
          "start": 31793438,
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        {
          "start": 31793652,
          "end": 31793802
        },
        {
          "start": 31794032,
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        {
          "start": 31794630,
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        },
        {
          "start": 31800691,
          "end": 31800856
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        {
          "start": 31801561,
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        {
          "start": 31801871,
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        {
          "start": 31802704,
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        },
        {
          "start": 31806402,
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        },
        {
          "start": 31806849,
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        },
        {
          "start": 31810828,
          "end": 31811015
        },
        {
          "start": 31811115,
          "end": 31811322
        }
      ],
      "cds": {
        "start": 31789934,
        "end": 31806411
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 31806340,
      "end": 31839509,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31300174,
      "end": 32300173,
      "genes": [
        {
          "symbol": "DCDC1",
          "ensemblId": "ENSG00000170959",
          "biotype": "protein_coding",
          "start": 30830369,
          "end": 31369810,
          "strand": "-",
          "slug": "dcdc1"
        },
        {
          "symbol": "DNAJC24",
          "ensemblId": "ENSG00000170946",
          "biotype": "protein_coding",
          "start": 31369799,
          "end": 31432835,
          "strand": "+",
          "slug": "dnajc24"
        },
        {
          "symbol": "IMMP1L",
          "ensemblId": "ENSG00000148950",
          "biotype": "protein_coding",
          "start": 31432399,
          "end": 31509656,
          "strand": "-",
          "slug": "immp1l"
        },
        {
          "symbol": "ELP4",
          "ensemblId": "ENSG00000109911",
          "biotype": "protein_coding",
          "start": 31509745,
          "end": 31790324,
          "strand": "+",
          "slug": "elp4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285283",
          "biotype": "protein_coding",
          "start": 31812391,
          "end": 32104665,
          "strand": "+"
        },
        {
          "symbol": "RCN1",
          "ensemblId": "ENSG00000049449",
          "biotype": "protein_coding",
          "start": 32090968,
          "end": 32107639,
          "strand": "+",
          "slug": "rcn1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "anterior-segment-dysgenesis-and-aniridia",
        "name": "Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & Aniridia",
        "diseases": [
          {
            "mondoId": "MONDO:0019172",
            "name": "Aniridia",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "A dominant condition, usually caused by changes in or deletions of PAX6, in which the iris is partly or completely absent, often with reduced vision and nystagmus.",
            "management": "Regular monitoring for glaucoma, cataract and corneal changes is recommended; when a deletion also includes the nearby WT1 gene, children need screening for Wilms tumour.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019503",
            "name": "Anterior Segment Dysgenesis",
            "genes": 8,
            "inheritance": null,
            "description": "A group of developmental conditions of the front of the eye, including Peters anomaly, caused by changes in genes such as FOXC1, PITX3, FOXE3, CYP1B1 and CPAMD8.",
            "management": "There is a high lifetime risk of glaucoma, so regular eye-pressure monitoring is recommended.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/anterior-segment-dysgenesis-and-aniridia"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes Mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.",
            "management": "Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/diabetes-mellitus"
      },
      {
        "slug": "kidney-cancer",
        "name": "Kidney Cancer",
        "diseases": [
          {
            "mondoId": "MONDO:0002367",
            "name": "Kidney Cancer",
            "genes": 9,
            "inheritance": null,
            "description": "Primary or metastatic malignant neoplasm involving the kidney.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/kidney-cancer"
      },
      {
        "slug": "urinary-and-renal-system-tumour",
        "name": "Urinary and Renal System Tumour",
        "diseases": [
          {
            "mondoId": "MONDO:0021066",
            "name": "Urinary System Neoplasm",
            "genes": 12,
            "inheritance": null,
            "description": "A benign or malignant, primary or metastatic neoplasm involving the urinary system.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/urinary-and-renal-system-tumour"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-corneal-limbus-morphology",
        "name": "Abnormal corneal limbus morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-corneal-limbus-morphology"
      },
      {
        "slug": "abnormal-foveal-pit-on-macular-oct",
        "name": "Abnormal foveal pit on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-foveal-pit-on-macular-oct"
      },
      {
        "slug": "abnormal-full-field-electroretinogram",
        "name": "Abnormal full-field electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram"
      },
      {
        "slug": "abnormal-multifocal-electroretinogram",
        "name": "Abnormal multifocal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-multifocal-electroretinogram"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormal-vagina-morphology",
        "name": "Abnormal vagina morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vagina-morphology"
      },
      {
        "slug": "abnormality-of-the-pulmonary-artery",
        "name": "Abnormality of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-pulmonary-artery"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-refraction",
        "name": "Abnormality of refraction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-refraction"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormality-of-the-uterus",
        "name": "Abnormality of the uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-uterus"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "bilateral-microphthalmos",
        "name": "Abnormally small eyeball on both sides",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-microphthalmos"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aniridia",
        "name": "Absent iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aniridia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-iris",
        "name": "Absent/small iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "anterior-subcapsular-cataract",
        "name": "Anterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anterior-subcapsular-cataract"
      },
      {
        "slug": "anterior-synechiae-of-the-anterior-chamber",
        "name": "Anterior synechiae of the anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anterior-synechiae-of-the-anterior-chamber"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-macula",
        "name": "Aplasia/Hypoplasia of the macula",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-macula"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "central-opacification-of-the-cornea",
        "name": "Central opacification of the cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-opacification-of-the-cornea"
      },
      {
        "slug": "chorioretinal-hypopigmentation",
        "name": "Chorioretinal hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chorioretinal-hypopigmentation"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "congenital-nystagmus",
        "name": "Congenital nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-nystagmus"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "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-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "developmental-glaucoma",
        "name": "Developmental glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-glaucoma"
      },
      {
        "slug": "ectopia-pupillae",
        "name": "Displaced pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ectopia-pupillae"
      },
      {
        "slug": "displacement-of-the-urethral-meatus",
        "name": "Displacement of the urethral meatus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/displacement-of-the-urethral-meatus"
      },
      {
        "slug": "everted-lower-lip-vermilion",
        "name": "Drooping lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-ptosis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca"
      },
      {
        "slug": "dysfunction-of-lateral-corticospinal-tracts",
        "name": "Dysfunction of lateral corticospinal tracts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysfunction-of-lateral-corticospinal-tracts"
      },
      {
        "slug": "ectopia-lentis",
        "name": "Ectopia lentis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ectopia-lentis"
      },
      {
        "slug": "scanning-speech",
        "name": "Explosive speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scanning-speech"
      },
      {
        "slug": "mask-like-facies",
        "name": "Expressionless face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mask-like-facies"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "generalized-hyperpigmentation",
        "name": "Generalized hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-hyperpigmentation"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "gonadoblastoma",
        "name": "Gonadoblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gonadoblastoma"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "sclerocornea",
        "name": "Hardening of skin and connective tissue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/sclerocornea"
      },
      {
        "slug": "hearing-abnormality",
        "name": "Hearing abnormality",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-abnormality"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "hypoplastic-iris-stroma",
        "name": "Hypoplastic iris stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-iris-stroma"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "increased-proinsulin-insulin-ratio",
        "name": "Increased proinsulin:insulin ratio",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-proinsulin-insulin-ratio"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "lens-coloboma",
        "name": "Lens coloboma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lens-coloboma"
      },
      {
        "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": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "macular-agenesis",
        "name": "Macular agenesis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macular-agenesis"
      },
      {
        "slug": "macular-hypoplasia",
        "name": "Macular hypoplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macular-hypoplasia"
      },
      {
        "slug": "microspherophakia",
        "name": "Microspherophakia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microspherophakia"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "morning-glory-anomaly",
        "name": "Morning glory anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/morning-glory-anomaly"
      },
      {
        "slug": "nephroblastoma",
        "name": "Nephroblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephroblastoma"
      },
      {
        "slug": "corneal-neovascularization",
        "name": "New blood vessel formation in cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-neovascularization"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-coloboma",
        "name": "Optic disc coloboma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-disc-coloboma"
      },
      {
        "slug": "optic-nerve-aplasia",
        "name": "Optic nerve aplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-nerve-aplasia"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "peters-anomaly",
        "name": "Peters anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peters-anomaly"
      },
      {
        "slug": "posterior-embryotoxon",
        "name": "Posterior embryotoxon",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/posterior-embryotoxon"
      },
      {
        "slug": "presenile-cataracts",
        "name": "Presenile cataracts",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/presenile-cataracts"
      },
      {
        "slug": "red-green-dyschromatopsia",
        "name": "Red green color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/red-green-dyschromatopsia"
      },
      {
        "slug": "remnants-of-the-hyaloid-vascular-system",
        "name": "Remnants of the hyaloid vascular system",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/remnants-of-the-hyaloid-vascular-system"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-vascular-tortuosity",
        "name": "Retinal vascular tortuosity",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-vascular-tortuosity"
      },
      {
        "slug": "rieger-anomaly",
        "name": "Rieger anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rieger-anomaly"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "streak-ovary",
        "name": "Streak ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/streak-ovary"
      },
      {
        "slug": "subcapsular-cataract",
        "name": "Subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subcapsular-cataract"
      },
      {
        "slug": "thinning-of-descemet-membrane",
        "name": "Thinning of Descemet membrane",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thinning-of-descemet-membrane"
      },
      {
        "slug": "hypoplasia-of-the-iris",
        "name": "Underdeveloped iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-iris"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "elp4",
        "symbol": "ELP4",
        "name": "elongator acetyltransferase complex subunit 4",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/elp4"
      },
      {
        "slug": "bap1",
        "symbol": "BAP1",
        "name": "BRCA1 associated deubiquitinase 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/bap1"
      },
      {
        "slug": "flcn",
        "symbol": "FLCN",
        "name": "folliculin",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/flcn"
      },
      {
        "slug": "met",
        "symbol": "MET",
        "name": "MET proto-oncogene, receptor tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/met"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/sdhb"
      },
      {
        "slug": "tp53",
        "symbol": "TP53",
        "name": "tumor protein p53",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/tp53"
      },
      {
        "slug": "trim28",
        "symbol": "TRIM28",
        "name": "tripartite motif containing 28",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/trim28"
      },
      {
        "slug": "vhl",
        "symbol": "VHL",
        "name": "von Hippel-Lindau tumor suppressor",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/vhl"
      },
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abcc8"
      },
      {
        "slug": "akt2",
        "symbol": "AKT2",
        "name": "AKT serine/threonine kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/akt2"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/bscl2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}