{
  "url": "https://dantelabs.com/el/genes/slc26a5",
  "gene": {
    "slug": "slc26a5",
    "symbol": "SLC26A5",
    "name": "solute carrier family 26 member 5",
    "hgnc": "HGNC:9359",
    "summary": null,
    "location": "7q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "DFNB61",
      "PRESTIN"
    ],
    "previousSymbols": [
      "PRES"
    ],
    "ensemblId": "ENSG00000170615",
    "entrezId": 375611,
    "omim": [
      "604943"
    ],
    "uniprot": [
      "P58743"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
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      "end": 103446207,
      "strand": "-",
      "ensemblTranscript": "ENST00000306312.8",
      "refseqTranscript": "NM_198999.3",
      "ensemblProtein": "ENSP00000304783.3",
      "refseqProtein": "NP_945350.1",
      "exons": [
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        {
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        },
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      ],
      "cds": {
        "start": 103374399,
        "end": 103421514
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 102993177,
      "end": 103086624,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 102910207,
      "end": 103910206,
      "genes": [
        {
          "symbol": "FBXL13",
          "ensemblId": "ENSG00000161040",
          "biotype": "protein_coding",
          "start": 102811020,
          "end": 103075400,
          "strand": "-",
          "slug": "fbxl13"
        },
        {
          "symbol": "LRRC17",
          "ensemblId": "ENSG00000128606",
          "biotype": "protein_coding",
          "start": 102912941,
          "end": 102945111,
          "strand": "+",
          "slug": "lrrc17"
        },
        {
          "symbol": "ARMC10",
          "ensemblId": "ENSG00000170632",
          "biotype": "protein_coding",
          "start": 103074625,
          "end": 103103945,
          "strand": "+",
          "slug": "armc10"
        },
        {
          "symbol": "NAPEPLD",
          "ensemblId": "ENSG00000161048",
          "biotype": "protein_coding",
          "start": 103099776,
          "end": 103151172,
          "strand": "-",
          "slug": "napepld"
        },
        {
          "symbol": "PMPCB",
          "ensemblId": "ENSG00000105819",
          "biotype": "protein_coding",
          "start": 103295717,
          "end": 103342067,
          "strand": "+",
          "slug": "pmpcb"
        },
        {
          "symbol": "DNAJC2",
          "ensemblId": "ENSG00000105821",
          "biotype": "protein_coding",
          "start": 103310497,
          "end": 103344837,
          "strand": "-",
          "slug": "dnajc2"
        },
        {
          "symbol": "PSMC2",
          "ensemblId": "ENSG00000161057",
          "biotype": "protein_coding",
          "start": 103328570,
          "end": 103370346,
          "strand": "+",
          "slug": "psmc2"
        },
        {
          "symbol": "RELN",
          "ensemblId": "ENSG00000189056",
          "biotype": "protein_coding",
          "start": 103471381,
          "end": 103989669,
          "strand": "-",
          "slug": "reln"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Απώλεια ακοής και κώφωση",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Μη συνδρομική γενετική απώλεια ακοής",
            "genes": 97,
            "inheritance": null,
            "description": "Κληρονομική απώλεια ακοής χωρίς άλλα ιατρικά συμπτώματα, συμπεριλαμβανομένων των συχνών υπολειπόμενων μορφών που προκαλούνται από τα GJB2, OTOF, SLC26A4, STRC και πολλά άλλα γονίδια, καθώς και των επικρατουσών, των φυλοσύνδετων και των μιτοχονδριακών μορφών.",
            "management": "Η γνώση της γενετικής αιτίας μπορεί να καθοδηγήσει την υποστήριξη ακοής και τις αποφάσεις για εμφύτευμα κοχλία, την επιλεξιμότητα για κλινικές δοκιμές γονιδιακής θεραπείας (για παράδειγμα για το OTOF) και τη γενετική συμβουλευτική της οικογένειας.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/actg1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cib2"
      },
      {
        "slug": "cldn14",
        "symbol": "CLDN14",
        "name": "claudin 14",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cldn14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}