{
  "url": "https://dantelabs.com/sv/genes/tmem126a",
  "gene": {
    "slug": "tmem126a",
    "symbol": "TMEM126A",
    "name": "transmembrane protein 126A",
    "hgnc": "HGNC:25382",
    "summary": null,
    "location": "11q14.1",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZp586C1924",
      "OPA7"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000171202",
    "entrezId": 84233,
    "omim": [
      "612988"
    ],
    "uniprot": [
      "Q9H061"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 85647967,
      "end": 85656542,
      "strand": "+",
      "ensemblTranscript": "ENST00000304511.7",
      "refseqTranscript": "NM_032273.4",
      "ensemblProtein": "ENSP00000306887.2",
      "refseqProtein": "NP_115649.1",
      "exons": [
        {
          "start": 85647967,
          "end": 85648089
        },
        {
          "start": 85650249,
          "end": 85650341
        },
        {
          "start": 85654063,
          "end": 85654256
        },
        {
          "start": 85655594,
          "end": 85655708
        },
        {
          "start": 85656309,
          "end": 85656542
        }
      ],
      "cds": {
        "start": 85650256,
        "end": 85656501
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 85359011,
      "end": 85367591,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 85152255,
      "end": 86152254,
      "genes": [
        {
          "symbol": "DLG2",
          "ensemblId": "ENSG00000150672",
          "biotype": "protein_coding",
          "start": 83455012,
          "end": 85628399,
          "strand": "-",
          "slug": "dlg2"
        },
        {
          "symbol": "TMEM126B",
          "ensemblId": "ENSG00000171204",
          "biotype": "protein_coding",
          "start": 85628556,
          "end": 85638965,
          "strand": "+",
          "slug": "tmem126b"
        },
        {
          "symbol": "CREBZF",
          "ensemblId": "ENSG00000137504",
          "biotype": "protein_coding",
          "start": 85657742,
          "end": 85682908,
          "strand": "-",
          "slug": "crebzf"
        },
        {
          "symbol": "CCDC89",
          "ensemblId": "ENSG00000179071",
          "biotype": "protein_coding",
          "start": 85683848,
          "end": 85686195,
          "strand": "-",
          "slug": "ccdc89"
        },
        {
          "symbol": "SYTL2",
          "ensemblId": "ENSG00000137501",
          "biotype": "protein_coding",
          "start": 85694224,
          "end": 85811182,
          "strand": "-",
          "slug": "sytl2"
        },
        {
          "symbol": "CCDC83",
          "ensemblId": "ENSG00000150676",
          "biotype": "protein_coding",
          "start": 85828907,
          "end": 85920021,
          "strand": "+",
          "slug": "ccdc83"
        },
        {
          "symbol": "PICALM",
          "ensemblId": "ENSG00000073921",
          "biotype": "protein_coding",
          "start": 85957157,
          "end": 86069882,
          "strand": "-",
          "slug": "picalm"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-optic-neuropathy",
        "name": "Hereditär optikusneuropati",
        "diseases": [
          {
            "mondoId": "MONDO:0043878",
            "name": "Ärftlig optikusatrofi",
            "genes": 13,
            "inheritance": null,
            "description": "Ärftlig förlust av synnervsfibrer, oftast autosomalt dominant optikusatrofi orsakad av förändringar i OPA1, samt de ovanligare typerna orsakade av OPA3, DNM1L, SSBP1 och andra gener.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hereditary-optic-neuropathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "aco2",
        "symbol": "ACO2",
        "name": "aconitase 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aco2"
      },
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/afg3l2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp1a3"
      },
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "name": "dynamin 1L",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dnm1l"
      },
      {
        "slug": "mt-nd1",
        "symbol": "MT-ND1",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/mt-nd1"
      },
      {
        "slug": "mt-nd4",
        "symbol": "MT-ND4",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/mt-nd4"
      },
      {
        "slug": "mt-nd5",
        "symbol": "MT-ND5",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/mt-nd5"
      },
      {
        "slug": "mt-nd6",
        "symbol": "MT-ND6",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/mt-nd6"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/opa1"
      },
      {
        "slug": "opa3",
        "symbol": "OPA3",
        "name": "outer mitochondrial membrane lipid metabolism regulator OPA3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/opa3"
      },
      {
        "slug": "rtn4ip1",
        "symbol": "RTN4IP1",
        "name": "reticulon 4 interacting protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/rtn4ip1"
      },
      {
        "slug": "ssbp1",
        "symbol": "SSBP1",
        "name": "single stranded DNA binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ssbp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}