{
  "url": "https://dantelabs.com/tr/genes/gsdme",
  "gene": {
    "slug": "gsdme",
    "symbol": "GSDME",
    "name": "gasdermin E",
    "hgnc": "HGNC:2810",
    "summary": null,
    "location": "7p15.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ICERE-1"
    ],
    "previousSymbols": [
      "DFNA5"
    ],
    "ensemblId": "ENSG00000105928",
    "entrezId": 1687,
    "omim": [
      "608798"
    ],
    "uniprot": [
      "O60443"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 24698355,
      "end": 24757464,
      "strand": "-",
      "ensemblTranscript": "ENST00000645220.1",
      "refseqTranscript": "NM_001127453.2",
      "ensemblProtein": "ENSP00000494186.1",
      "refseqProtein": "NP_001120925.1",
      "exons": [
        {
          "start": 24698355,
          "end": 24699259
        },
        {
          "start": 24702760,
          "end": 24702833
        },
        {
          "start": 24706184,
          "end": 24706376
        },
        {
          "start": 24708127,
          "end": 24708254
        },
        {
          "start": 24710224,
          "end": 24710388
        },
        {
          "start": 24717254,
          "end": 24717374
        },
        {
          "start": 24719047,
          "end": 24719218
        },
        {
          "start": 24744562,
          "end": 24744754
        },
        {
          "start": 24749564,
          "end": 24749793
        },
        {
          "start": 24757396,
          "end": 24757464
        }
      ],
      "cds": {
        "start": 24699026,
        "end": 24749774
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 24737972,
      "end": 24809244,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 24227910,
      "end": 25227909,
      "genes": [
        {
          "symbol": "NPY",
          "ensemblId": "ENSG00000122585",
          "biotype": "protein_coding",
          "start": 24284182,
          "end": 24291867,
          "strand": "+",
          "slug": "npy"
        },
        {
          "symbol": "PALS2",
          "ensemblId": "ENSG00000105926",
          "biotype": "protein_coding",
          "start": 24572936,
          "end": 24694193,
          "strand": "+",
          "slug": "pals2"
        },
        {
          "symbol": "OSBPL3",
          "ensemblId": "ENSG00000070882",
          "biotype": "protein_coding",
          "start": 24796536,
          "end": 24981634,
          "strand": "-",
          "slug": "osbpl3"
        },
        {
          "symbol": "CYCS",
          "ensemblId": "ENSG00000172115",
          "biotype": "protein_coding",
          "start": 25080179,
          "end": 25125367,
          "strand": "-",
          "slug": "cycs"
        },
        {
          "symbol": "SPMIP4",
          "ensemblId": "ENSG00000153790",
          "biotype": "protein_coding",
          "start": 25134676,
          "end": 25180385,
          "strand": "-",
          "slug": "spmip4"
        },
        {
          "symbol": "NPVF",
          "ensemblId": "ENSG00000105954",
          "biotype": "protein_coding",
          "start": 25224570,
          "end": 25228486,
          "strand": "-",
          "slug": "npvf"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "İşitme Kaybı ve Sağırlık",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "Otozomal Dominant Sendromik Olmayan İşitme Kaybı",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "Sendromik olmayan sağırlığın otozomal dominant formu.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Sendromik Olmayan Genetik İşitme Kaybı",
            "genes": 97,
            "inheritance": null,
            "description": "Diğer tıbbi belirtiler olmaksızın görülen kalıtsal işitme kaybı; GJB2, OTOF, SLC26A4, STRC ve diğer birçok gen nedeniyle oluşan yaygın çekinik formların yanı sıra baskın, X'e bağlı ve mitokondriyal formları da içerir.",
            "management": "Genetik nedeni bilmek; işitme desteği ve koklear implant kararlarına, gen tedavisi çalışmalarına uygunluğa (örneğin OTOF) ve aile danışmanlığına yol gösterebilir.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "progressive-sensorineural-hearing-impairment",
        "name": "Progressive sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/ceacam16"
      },
      {
        "slug": "coch",
        "symbol": "COCH",
        "name": "cochlin",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/coch"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/col11a2"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/diaph1"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/eya4"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/gjb6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}