{
  "url": "https://dantelabs.com/nl/genes/myoc",
  "gene": {
    "slug": "myoc",
    "symbol": "MYOC",
    "name": "myocilin",
    "hgnc": "HGNC:7610",
    "summary": null,
    "location": "1q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "TIGR",
      "JOAG1"
    ],
    "previousSymbols": [
      "GLC1A"
    ],
    "ensemblId": "ENSG00000034971",
    "entrezId": 4653,
    "omim": [
      "601652"
    ],
    "uniprot": [
      "Q99972"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 171635417,
      "end": 171652688,
      "strand": "-",
      "ensemblTranscript": "ENST00000037502.11",
      "refseqTranscript": "NM_000261.2",
      "ensemblProtein": "ENSP00000037502.5",
      "refseqProtein": "NP_000252.1",
      "exons": [
        {
          "start": 171635417,
          "end": 171636709
        },
        {
          "start": 171638597,
          "end": 171638722
        },
        {
          "start": 171652008,
          "end": 171652688
        }
      ],
      "cds": {
        "start": 171635925,
        "end": 171652611
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 171604557,
      "end": 171621823,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 171144053,
      "end": 172144052,
      "genes": [
        {
          "symbol": "FMO2",
          "ensemblId": "ENSG00000094963",
          "biotype": "protein_coding",
          "start": 171185249,
          "end": 171212686,
          "strand": "+",
          "slug": "fmo2"
        },
        {
          "symbol": "FMO1",
          "ensemblId": "ENSG00000010932",
          "biotype": "protein_coding",
          "start": 171248471,
          "end": 171285978,
          "strand": "+",
          "slug": "fmo1"
        },
        {
          "symbol": "FMO4",
          "ensemblId": "ENSG00000076258",
          "biotype": "protein_coding",
          "start": 171314091,
          "end": 171343757,
          "strand": "+",
          "slug": "fmo4"
        },
        {
          "symbol": "PRRC2C",
          "ensemblId": "ENSG00000117523",
          "biotype": "protein_coding",
          "start": 171485530,
          "end": 171593511,
          "strand": "+",
          "slug": "prrc2c"
        },
        {
          "symbol": "MYOCOS",
          "ensemblId": "ENSG00000283683",
          "biotype": "protein_coding",
          "start": 171600621,
          "end": 171638799,
          "strand": "+",
          "slug": "myocos"
        },
        {
          "symbol": "VAMP4",
          "ensemblId": "ENSG00000117533",
          "biotype": "protein_coding",
          "start": 171700160,
          "end": 171743206,
          "strand": "-",
          "slug": "vamp4"
        },
        {
          "symbol": "METTL13",
          "ensemblId": "ENSG00000010165",
          "biotype": "protein_coding",
          "start": 171781420,
          "end": 171814023,
          "strand": "+",
          "slug": "mettl13"
        },
        {
          "symbol": "DNM3",
          "ensemblId": "ENSG00000197959",
          "biotype": "protein_coding",
          "start": 171817887,
          "end": 172418466,
          "strand": "+",
          "slug": "dnm3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glaucoma",
        "name": "Glaucoom",
        "diseases": [
          {
            "mondoId": "MONDO:0005041",
            "name": "Glaucoom",
            "genes": 8,
            "inheritance": null,
            "description": "Verhoogde druk in het oog door een belemmerde afvoer van kamerwater.",
            "management": "Oogdruk verlagende druppels (prostaglandineanalogen, bètablokkers); selectieve lasertrabeculoplastiek; MIGS-chirurgie; trabeculotomie/goniotomie bij aangeboren glaucoom; familiescreening via cascadetest; jaarlijkse controle van de oogdruk voor dragers",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/glaucoma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-anterior-chamber-morphology",
        "name": "Abnormal anterior chamber morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-anterior-chamber-morphology"
      },
      {
        "slug": "abnormal-descemet-membrane-morphology",
        "name": "Abnormal Descemet membrane morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology"
      },
      {
        "slug": "abnormal-iris-vasculature",
        "name": "Abnormality of iris blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormal-iris-vasculature"
      },
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      },
      {
        "slug": "anisometropia",
        "name": "Anisometropia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anisometropia"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "corneal-stromal-edema",
        "name": "Corneal stromal edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-stromal-edema"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "deep-anterior-chamber",
        "name": "Deep anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deep-anterior-chamber"
      },
      {
        "slug": "megalocornea",
        "name": "Enlarged cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/megalocornea"
      },
      {
        "slug": "buphthalmos",
        "name": "Enlarged eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/buphthalmos"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "blepharospasm",
        "name": "Eyelid spasm",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blepharospasm"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "glaucomatous-visual-field-defect",
        "name": "Glaucomatous visual field defect",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucomatous-visual-field-defect"
      },
      {
        "slug": "ocular-hypertension",
        "name": "High eye pressure",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ocular-hypertension"
      },
      {
        "slug": "increased-cup-to-disc-ratio",
        "name": "Increased cup-to-disc ratio",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-cup-to-disc-ratio"
      },
      {
        "slug": "epiphora",
        "name": "Increased tears",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epiphora"
      },
      {
        "slug": "iridodonesis",
        "name": "Iridodonesis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iridodonesis"
      },
      {
        "slug": "iris-atrophy",
        "name": "Iris degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-atrophy"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "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": "open-angle-glaucoma",
        "name": "Open angle glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/open-angle-glaucoma"
      },
      {
        "slug": "abnormal-optic-nerve-morphology",
        "name": "Optic nerve issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology"
      },
      {
        "slug": "reduced-anterior-scleral-thickness",
        "name": "Reduced anterior scleral thickness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-anterior-scleral-thickness"
      },
      {
        "slug": "retinal-arterial-occlusion",
        "name": "Retinal arterial occlusion",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-arterial-occlusion"
      },
      {
        "slug": "retinal-venous-occlusion",
        "name": "Retinal venous occlusion",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-venous-occlusion"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "temporal-optic-disc-pallor",
        "name": "Temporal optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/temporal-optic-disc-pallor"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "cyp1b1",
        "symbol": "CYP1B1",
        "name": "cytochrome P450 family 1 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cyp1b1"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/efemp1"
      },
      {
        "slug": "foxc1",
        "symbol": "FOXC1",
        "name": "forkhead box C1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/foxc1"
      },
      {
        "slug": "ltbp2",
        "symbol": "LTBP2",
        "name": "latent transforming growth factor beta binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ltbp2"
      },
      {
        "slug": "optn",
        "symbol": "OPTN",
        "name": "optineurin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/optn"
      },
      {
        "slug": "tek",
        "symbol": "TEK",
        "name": "TEK receptor tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/tek"
      },
      {
        "slug": "thbs1",
        "symbol": "THBS1",
        "name": "thrombospondin 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/thbs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 49,
    "url": "https://dantelabs.com/genes/myoc/variants",
    "items": [
      {
        "slug": "a363t",
        "name": "A363T",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1087G>A",
        "position": 171636353,
        "grch37Position": 171605493,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/a363t"
      },
      {
        "slug": "c-1440c-g",
        "name": "c.1440C>G",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 171636000,
        "grch37Position": 171605140,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/c-1440c-g"
      },
      {
        "slug": "c433r",
        "name": "C433R",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1297T>C",
        "position": 171636143,
        "grch37Position": 171605283,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/c433r"
      },
      {
        "slug": "c433y",
        "name": "C433Y",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1298G>A",
        "position": 171636142,
        "grch37Position": 171605282,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/c433y"
      },
      {
        "slug": "d380a",
        "name": "D380A",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1139A>C",
        "position": 171636301,
        "grch37Position": 171605441,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/d380a"
      },
      {
        "slug": "d380g",
        "name": "D380G",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1139A>G",
        "position": 171636301,
        "grch37Position": 171605441,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/d380g"
      },
      {
        "slug": "d380h",
        "name": "D380H",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1138G>C",
        "position": 171636302,
        "grch37Position": 171605442,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/d380h"
      },
      {
        "slug": "d380y",
        "name": "D380Y",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1138G>T",
        "position": 171636302,
        "grch37Position": 171605442,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/d380y"
      },
      {
        "slug": "d384g",
        "name": "D384G",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1151A>G",
        "position": 171636289,
        "grch37Position": 171605429,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/d384g"
      },
      {
        "slug": "d384h",
        "name": "D384H",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1150G>C",
        "position": 171636290,
        "grch37Position": 171605430,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/d384h"
      },
      {
        "slug": "d384n",
        "name": "D384N",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1150G>A",
        "position": 171636290,
        "grch37Position": 171605430,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/d384n"
      },
      {
        "slug": "e323k",
        "name": "E323K",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.967G>A",
        "position": 171636473,
        "grch37Position": 171605613,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/e323k"
      },
      {
        "slug": "e385k",
        "name": "E385K",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1153G>A",
        "position": 171636287,
        "grch37Position": 171605427,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/myoc/variants/e385k"
      },
      {
        "slug": "e396dup",
        "name": "E396dup",
        "commonName": null,
        "symbol": "MYOC",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1187_1189dup",
        "position": 171636250,
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