{
  "url": "https://dantelabs.com/pl/genes/liph",
  "gene": {
    "slug": "liph",
    "symbol": "LIPH",
    "name": "lipase H",
    "hgnc": "HGNC:18483",
    "summary": null,
    "location": "3q27.2",
    "locusType": "gene with protein product",
    "aliases": [
      "mPA-PLA1",
      "PLA1B",
      "mPA-PLA1alpha",
      "LPDLR"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000163898",
    "entrezId": 200879,
    "omim": [
      "607365"
    ],
    "uniprot": [
      "Q8WWY8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 185506262,
      "end": 185552588,
      "strand": "-",
      "ensemblTranscript": "ENST00000296252.9",
      "refseqTranscript": "NM_139248.3",
      "ensemblProtein": "ENSP00000296252.4",
      "refseqProtein": "NP_640341.1",
      "exons": [
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          "end": 185508877
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        {
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        },
        {
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        }
      ],
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        "end": 185552471
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 185224050,
      "end": 185270401,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 185029425,
      "end": 186029424,
      "genes": [
        {
          "symbol": "VPS8",
          "ensemblId": "ENSG00000156931",
          "biotype": "protein_coding",
          "start": 184812113,
          "end": 185054009,
          "strand": "+",
          "slug": "vps8"
        },
        {
          "symbol": "C3orf70",
          "ensemblId": "ENSG00000187068",
          "biotype": "protein_coding",
          "start": 185076838,
          "end": 185153654,
          "strand": "-",
          "slug": "c3orf70"
        },
        {
          "symbol": "EHHADH",
          "ensemblId": "ENSG00000113790",
          "biotype": "protein_coding",
          "start": 185190624,
          "end": 185281990,
          "strand": "-",
          "slug": "ehhadh"
        },
        {
          "symbol": "MAP3K13",
          "ensemblId": "ENSG00000073803",
          "biotype": "protein_coding",
          "start": 185282941,
          "end": 185489094,
          "strand": "+",
          "slug": "map3k13"
        },
        {
          "symbol": "TMEM41A",
          "ensemblId": "ENSG00000163900",
          "biotype": "protein_coding",
          "start": 185475950,
          "end": 185499096,
          "strand": "-",
          "slug": "tmem41a"
        },
        {
          "symbol": "SENP2",
          "ensemblId": "ENSG00000163904",
          "biotype": "protein_coding",
          "start": 185582496,
          "end": 185633551,
          "strand": "+",
          "slug": "senp2"
        },
        {
          "symbol": "IGF2BP2",
          "ensemblId": "ENSG00000073792",
          "biotype": "protein_coding",
          "start": 185643130,
          "end": 185825309,
          "strand": "-",
          "slug": "igf2bp2"
        },
        {
          "symbol": "TRA2B",
          "ensemblId": "ENSG00000136527",
          "biotype": "protein_coding",
          "start": 185914558,
          "end": 185938103,
          "strand": "-",
          "slug": "tra2b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-hypotrichosis-and-hair-shaft-disorders",
        "name": "Dziedziczna hipotrichoza, włosy wełniste i monilethrix",
        "diseases": [
          {
            "mondoId": "MONDO:0003037",
            "name": "Dziedziczna hipotrichoza",
            "genes": 11,
            "inheritance": null,
            "description": "Rzadkie lub nieobecne owłosienie skóry głowy i ciała od dzieciństwa, w tym postacie związane z genami LIPH i LPAR6.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/hereditary-hypotrichosis-and-hair-shaft-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-hair-texture",
        "name": "Abnormality of hair texture",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-hair-texture"
      },
      {
        "slug": "abnormal-pupil-morphology",
        "name": "Abnormality of the pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pupil-morphology"
      },
      {
        "slug": "woolly-hair",
        "name": "Afro-textured hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/woolly-hair"
      },
      {
        "slug": "brittle-hair",
        "name": "Brittle hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/brittle-hair"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "comedo",
        "name": "Comedo",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/comedo"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "fine-hair",
        "name": "Fine hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fine-hair"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "sparse-axillary-hair",
        "name": "Limited armpit hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-axillary-hair"
      },
      {
        "slug": "sparse-lateral-eyebrow",
        "name": "Limited hair on end of eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-lateral-eyebrow"
      },
      {
        "slug": "hypopigmentation-of-hair",
        "name": "Loss of hair color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-hair"
      },
      {
        "slug": "abnormal-retinal-morphology",
        "name": "Retina issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-retinal-morphology"
      },
      {
        "slug": "slow-growing-hair",
        "name": "Slow-growing hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-growing-hair"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      }
    ],
    "related": [
      {
        "slug": "apcdd1",
        "symbol": "APCDD1",
        "name": "APC down-regulated 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/apcdd1"
      },
      {
        "slug": "c3orf52",
        "symbol": "C3orf52",
        "name": "chromosome 3 open reading frame 52",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/c3orf52"
      },
      {
        "slug": "cdh3",
        "symbol": "CDH3",
        "name": "cadherin 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cdh3"
      },
      {
        "slug": "cdsn",
        "symbol": "CDSN",
        "name": "corneodesmosin",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cdsn"
      },
      {
        "slug": "dsg4",
        "symbol": "DSG4",
        "name": "desmoglein 4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dsg4"
      },
      {
        "slug": "hr",
        "symbol": "HR",
        "name": "HR lysine demethylase and nuclear receptor corepressor",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/hr"
      },
      {
        "slug": "lpar6",
        "symbol": "LPAR6",
        "name": "lysophosphatidic acid receptor 6",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/lpar6"
      },
      {
        "slug": "lss",
        "symbol": "LSS",
        "name": "lanosterol synthase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/lss"
      },
      {
        "slug": "rpl21",
        "symbol": "RPL21",
        "name": "ribosomal protein L21",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/rpl21"
      },
      {
        "slug": "snrpe",
        "symbol": "SNRPE",
        "name": "small nuclear ribonucleoprotein polypeptide E",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/snrpe"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}