{
  "url": "https://dantelabs.com/et/genes/lhfpl5",
  "gene": {
    "slug": "lhfpl5",
    "symbol": "LHFPL5",
    "name": "LHFPL tetraspan subfamily member 5",
    "hgnc": "HGNC:21253",
    "summary": null,
    "location": "6p21.31",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC33835",
      "dJ510O8.8",
      "Tmhs"
    ],
    "previousSymbols": [
      "DFNB67"
    ],
    "ensemblId": "ENSG00000197753",
    "entrezId": 222662,
    "omim": [
      "609427"
    ],
    "uniprot": [
      "Q8TAF8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 35805352,
      "end": 35824070,
      "strand": "+",
      "ensemblTranscript": "ENST00000360215.3",
      "refseqTranscript": "NM_182548.4",
      "ensemblProtein": "ENSP00000353346.1",
      "refseqProtein": "NP_872354.1",
      "exons": [
        {
          "start": 35805352,
          "end": 35806082
        },
        {
          "start": 35814546,
          "end": 35814782
        },
        {
          "start": 35819437,
          "end": 35819463
        },
        {
          "start": 35822982,
          "end": 35824070
        }
      ],
      "cds": {
        "start": 35805671,
        "end": 35819447
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 35773070,
      "end": 35801651,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 35314711,
      "end": 36314710,
      "genes": [
        {
          "symbol": "DEF6",
          "ensemblId": "ENSG00000023892",
          "biotype": "protein_coding",
          "start": 35297818,
          "end": 35321909,
          "strand": "+",
          "slug": "def6"
        },
        {
          "symbol": "PPARD",
          "ensemblId": "ENSG00000112033",
          "biotype": "protein_coding",
          "start": 35342530,
          "end": 35428193,
          "strand": "+",
          "slug": "ppard"
        },
        {
          "symbol": "FANCE",
          "ensemblId": "ENSG00000112039",
          "biotype": "protein_coding",
          "start": 35452315,
          "end": 35467106,
          "strand": "+",
          "slug": "fance"
        },
        {
          "symbol": "RPL10A",
          "ensemblId": "ENSG00000198755",
          "biotype": "protein_coding",
          "start": 35468366,
          "end": 35470786,
          "strand": "+",
          "slug": "rpl10a"
        },
        {
          "symbol": "TEAD3",
          "ensemblId": "ENSG00000007866",
          "biotype": "protein_coding",
          "start": 35473597,
          "end": 35497868,
          "strand": "-",
          "slug": "tead3"
        },
        {
          "symbol": "TULP1",
          "ensemblId": "ENSG00000112041",
          "biotype": "protein_coding",
          "start": 35497874,
          "end": 35512941,
          "strand": "-",
          "slug": "tulp1"
        },
        {
          "symbol": "FKBP5",
          "ensemblId": "ENSG00000096060",
          "biotype": "protein_coding",
          "start": 35572945,
          "end": 35728622,
          "strand": "-",
          "slug": "fkbp5"
        },
        {
          "symbol": "ARMC12",
          "ensemblId": "ENSG00000157343",
          "biotype": "protein_coding",
          "start": 35737028,
          "end": 35749079,
          "strand": "+",
          "slug": "armc12"
        },
        {
          "symbol": "CLPSL2",
          "ensemblId": "ENSG00000196748",
          "biotype": "protein_coding",
          "start": 35776535,
          "end": 35779557,
          "strand": "+",
          "slug": "clpsl2"
        },
        {
          "symbol": "CLPSL1",
          "ensemblId": "ENSG00000204140",
          "biotype": "protein_coding",
          "start": 35781019,
          "end": 35793675,
          "strand": "+",
          "slug": "clpsl1"
        },
        {
          "symbol": "CLPS",
          "ensemblId": "ENSG00000137392",
          "biotype": "protein_coding",
          "start": 35794982,
          "end": 35798251,
          "strand": "-",
          "slug": "clps"
        },
        {
          "symbol": "SRPK1",
          "ensemblId": "ENSG00000096063",
          "biotype": "protein_coding",
          "start": 35832966,
          "end": 35921342,
          "strand": "-",
          "slug": "srpk1"
        },
        {
          "symbol": "SLC26A8",
          "ensemblId": "ENSG00000112053",
          "biotype": "protein_coding",
          "start": 35943516,
          "end": 36028767,
          "strand": "-",
          "slug": "slc26a8"
        },
        {
          "symbol": "MAPK14",
          "ensemblId": "ENSG00000112062",
          "biotype": "protein_coding",
          "start": 36027700,
          "end": 36122511,
          "strand": "+",
          "slug": "mapk14"
        },
        {
          "symbol": "MAPK13",
          "ensemblId": "ENSG00000156711",
          "biotype": "protein_coding",
          "start": 36127809,
          "end": 36144524,
          "strand": "+",
          "slug": "mapk13"
        },
        {
          "symbol": "BRPF3",
          "ensemblId": "ENSG00000096070",
          "biotype": "protein_coding",
          "start": 36196006,
          "end": 36232790,
          "strand": "+",
          "slug": "brpf3"
        },
        {
          "symbol": "PNPLA1",
          "ensemblId": "ENSG00000180316",
          "biotype": "protein_coding",
          "start": 36243203,
          "end": 36313955,
          "strand": "+",
          "slug": "pnpla1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Kuulmislangus ja kurtus",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Mittesündroomiline pärilik kuulmislangus",
            "genes": 97,
            "inheritance": null,
            "description": "Pärilik kuulmislangus ilma muude meditsiiniliste tunnusteta, sh levinud retsessiivsed vormid, mis on põhjustatud geenidest GJB2, OTOF, SLC26A4, STRC ja paljudest teistest geenidest, samuti dominantsed, X-seotud ja mitokondriaalsed vormid.",
            "management": "Geneetilise põhjuse teadmine võib aidata otsustada kuulmistoe ja koklea-implantaadi kasutuse üle, hinnata sobivust geeniteraapia uuringutesse (näiteks OTOF) ning toetada perekonna nõustamist.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/et/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "bilateral-sensorineural-hearing-impairment",
        "name": "Bilateral sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/actg1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cib2"
      },
      {
        "slug": "cldn14",
        "symbol": "CLDN14",
        "name": "claudin 14",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cldn14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}