{
  "url": "https://dantelabs.com/tr/genes/optn",
  "gene": {
    "slug": "optn",
    "symbol": "OPTN",
    "name": "optineurin",
    "hgnc": "HGNC:17142",
    "summary": null,
    "location": "10p13",
    "locusType": "gene with protein product",
    "aliases": [
      "FIP2",
      "HYPL",
      "FIP-2",
      "TFIIIA-INTP",
      "NRP",
      "HIP7"
    ],
    "previousSymbols": [
      "GLC1E"
    ],
    "ensemblId": "ENSG00000123240",
    "entrezId": 10133,
    "omim": [
      "602432"
    ],
    "uniprot": [
      "Q96CV9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 13100163,
      "end": 13138308,
      "strand": "+",
      "ensemblTranscript": "ENST00000378747.8",
      "refseqTranscript": "NM_001008212.2",
      "ensemblProtein": "ENSP00000368021.3",
      "refseqProtein": "NP_001008213.1",
      "exons": [
        {
          "start": 13100163,
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        {
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        {
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        {
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      ],
      "cds": {
        "start": 13109123,
        "end": 13136866
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 13141449,
      "end": 13180291,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 12619236,
      "end": 13619235,
      "genes": [
        {
          "symbol": "CAMK1D",
          "ensemblId": "ENSG00000183049",
          "biotype": "protein_coding",
          "start": 12349513,
          "end": 12835545,
          "strand": "+",
          "slug": "camk1d"
        },
        {
          "symbol": "CCDC3",
          "ensemblId": "ENSG00000151468",
          "biotype": "protein_coding",
          "start": 12896625,
          "end": 13099652,
          "strand": "-",
          "slug": "ccdc3"
        },
        {
          "symbol": "MCM10",
          "ensemblId": "ENSG00000065328",
          "biotype": "protein_coding",
          "start": 13161526,
          "end": 13211110,
          "strand": "+",
          "slug": "mcm10"
        },
        {
          "symbol": "UCMA",
          "ensemblId": "ENSG00000165623",
          "biotype": "protein_coding",
          "start": 13220609,
          "end": 13234428,
          "strand": "-",
          "slug": "ucma"
        },
        {
          "symbol": "PHYH",
          "ensemblId": "ENSG00000107537",
          "biotype": "protein_coding",
          "start": 13276854,
          "end": 13302412,
          "strand": "-",
          "slug": "phyh"
        },
        {
          "symbol": "SEPHS1",
          "ensemblId": "ENSG00000086475",
          "biotype": "protein_coding",
          "start": 13317425,
          "end": 13348596,
          "strand": "-",
          "slug": "sephs1"
        },
        {
          "symbol": "BEND7",
          "ensemblId": "ENSG00000165626",
          "biotype": "protein_coding",
          "start": 13438484,
          "end": 13529287,
          "strand": "-",
          "slug": "bend7"
        },
        {
          "symbol": "PRPF18",
          "ensemblId": "ENSG00000165630",
          "biotype": "protein_coding",
          "start": 13586922,
          "end": 13668445,
          "strand": "+",
          "slug": "prpf18"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Amyotrofik Lateral Skleroz (ALS)",
        "diseases": [
          {
            "mondoId": "MONDO:0004976",
            "name": "Amyotrofik Lateral Skleroz",
            "genes": 29,
            "inheritance": null,
            "description": "Üst ve alt motor nöronları etkileyen, sporadik ve ailesel formları görülen bir nörodejeneratif bozukluktur.",
            "management": "SOD1-ALS için tofersen (Qalsody, FDA 2023); C9orf72 ve FUS için ASO çalışmaları; riluzol; edaravon; AMX0035 (sodyum fenilbutirat-tauroursodiol); multidisipliner ALS klinik bakımı; solunum desteği; aile bireyleri için genetik danışmanlık",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "glaucoma",
        "name": "Glokom",
        "diseases": [
          {
            "mondoId": "MONDO:0005041",
            "name": "Glokom",
            "genes": 8,
            "inheritance": null,
            "description": "Sulu humor çıkışının engellenmesi nedeniyle göz küresinde basıncın artmasıdır.",
            "management": "GİB düşürücü damlalar (prostaglandin analogları, beta blokerler); seçici lazer trabekuloplasti; MIGS cerrahisi; konjenital glokom için trabekülotomi/goniyotomi; kaskad aile genetik taraması; taşıyıcılar için yıllık GİB izlemi",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/glaucoma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-on-pulmonary-function-testing",
        "name": "Abnormality on pulmonary function testing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-on-pulmonary-function-testing"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "upper-limb-muscle-weakness",
        "name": "Decreased arm strength",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness"
      },
      {
        "slug": "xerostomia",
        "name": "Decreased salivary flow",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xerostomia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "emg-positive-sharp-waves",
        "name": "EMG: positive sharp waves",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-positive-sharp-waves"
      },
      {
        "slug": "fatigable-weakness-of-bulbar-muscles",
        "name": "Fatigable weakness of bulbar muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-bulbar-muscles"
      },
      {
        "slug": "fatigable-weakness-of-respiratory-muscles",
        "name": "Fatigable weakness of respiratory muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-respiratory-muscles"
      },
      {
        "slug": "fatigable-weakness-of-swallowing-muscles",
        "name": "Fatigable weakness of swallowing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-swallowing-muscles"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frontotemporal-dementia",
        "name": "Frontotemporal dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontotemporal-dementia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "hoffmann-sign",
        "name": "Hoffmann sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoffmann-sign"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "jaw-hyperreflexia",
        "name": "Jaw hyperreflexia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaw-hyperreflexia"
      },
      {
        "slug": "language-impairment",
        "name": "Language impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/language-impairment"
      },
      {
        "slug": "laryngospasm",
        "name": "Laryngospasm",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/laryngospasm"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Lou Gehrig's disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "motor-neuron-atrophy",
        "name": "Motor neuron atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-neuron-atrophy"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neurodegeneration",
        "name": "Ongoing loss of nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neurodegeneration"
      },
      {
        "slug": "open-angle-glaucoma",
        "name": "Open angle glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/open-angle-glaucoma"
      },
      {
        "slug": "orthopnea",
        "name": "Orthopnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orthopnea"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "paralysis",
        "name": "Paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paralysis"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-distal-muscular-atrophy",
        "name": "Progressive distal muscular atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-distal-muscular-atrophy"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "tongue-fasciculations",
        "name": "Tongue twitching",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-fasciculations"
      },
      {
        "slug": "tongue-atrophy",
        "name": "Wasting of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-atrophy"
      },
      {
        "slug": "cachexia",
        "name": "Wasting syndrome",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cachexia"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "als2",
        "symbol": "ALS2",
        "name": "alsin Rho guanine nucleotide exchange factor ALS2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/als2"
      },
      {
        "slug": "ang",
        "symbol": "ANG",
        "name": "angiogenin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ang"
      },
      {
        "slug": "anxa11",
        "symbol": "ANXA11",
        "name": "annexin A11",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/anxa11"
      },
      {
        "slug": "c9orf72",
        "symbol": "C9orf72",
        "name": "C9orf72-SMCR8 complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/c9orf72"
      },
      {
        "slug": "ccnf",
        "symbol": "CCNF",
        "name": "cyclin F",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ccnf"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/chchd10"
      },
      {
        "slug": "chmp2b",
        "symbol": "CHMP2B",
        "name": "charged multivesicular body protein 2B",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/chmp2b"
      },
      {
        "slug": "cyld",
        "symbol": "CYLD",
        "name": "CYLD lysine 63 deubiquitinase",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cyld"
      },
      {
        "slug": "cyp1b1",
        "symbol": "CYP1B1",
        "name": "cytochrome P450 family 1 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cyp1b1"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/dctn1"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/efemp1"
      },
      {
        "slug": "erbb4",
        "symbol": "ERBB4",
        "name": "erb-b2 receptor tyrosine kinase 4",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/erbb4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}