{
  "url": "https://dantelabs.com/nl/genes/serpinb7",
  "gene": {
    "slug": "serpinb7",
    "symbol": "SERPINB7",
    "name": "serpin family B member 7",
    "hgnc": "HGNC:13902",
    "summary": null,
    "location": "18q21.33",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166396",
    "entrezId": 8710,
    "omim": [
      "603357"
    ],
    "uniprot": [
      "O75635"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 63775418,
      "end": 63805370,
      "strand": "+",
      "ensemblTranscript": "ENST00000398019.7",
      "refseqTranscript": "NM_003784.4",
      "ensemblProtein": "ENSP00000381101.2",
      "refseqProtein": "NP_003775.1",
      "exons": [
        {
          "start": 63775418,
          "end": 63775716
        },
        {
          "start": 63782355,
          "end": 63782540
        },
        {
          "start": 63792393,
          "end": 63792443
        },
        {
          "start": 63793161,
          "end": 63793277
        },
        {
          "start": 63796266,
          "end": 63796383
        },
        {
          "start": 63798604,
          "end": 63798746
        },
        {
          "start": 63800866,
          "end": 63801012
        },
        {
          "start": 63804237,
          "end": 63805370
        }
      ],
      "cds": {
        "start": 63782373,
        "end": 63804635
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 61420169,
      "end": 61472604,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 63290394,
      "end": 64290393,
      "genes": [
        {
          "symbol": "BCL2",
          "ensemblId": "ENSG00000171791",
          "biotype": "protein_coding",
          "start": 63123346,
          "end": 63320215,
          "strand": "-",
          "slug": "bcl2"
        },
        {
          "symbol": "KDSR",
          "ensemblId": "ENSG00000119537",
          "biotype": "protein_coding",
          "start": 63327566,
          "end": 63367615,
          "strand": "-",
          "slug": "kdsr"
        },
        {
          "symbol": "VPS4B",
          "ensemblId": "ENSG00000119541",
          "biotype": "protein_coding",
          "start": 63389119,
          "end": 63422521,
          "strand": "-",
          "slug": "vps4b"
        },
        {
          "symbol": "SERPINB5",
          "ensemblId": "ENSG00000206075",
          "biotype": "protein_coding",
          "start": 63476817,
          "end": 63505085,
          "strand": "+",
          "slug": "serpinb5"
        },
        {
          "symbol": "SERPINB12",
          "ensemblId": "ENSG00000166634",
          "biotype": "protein_coding",
          "start": 63542369,
          "end": 63569329,
          "strand": "+",
          "slug": "serpinb12"
        },
        {
          "symbol": "SERPINB13",
          "ensemblId": "ENSG00000197641",
          "biotype": "protein_coding",
          "start": 63586654,
          "end": 63604639,
          "strand": "+",
          "slug": "serpinb13"
        },
        {
          "symbol": "SERPINB4",
          "ensemblId": "ENSG00000206073",
          "biotype": "protein_coding",
          "start": 63637259,
          "end": 63644263,
          "strand": "-",
          "slug": "serpinb4"
        },
        {
          "symbol": "SERPINB11",
          "ensemblId": "ENSG00000206072",
          "biotype": "protein_coding",
          "start": 63647579,
          "end": 63726432,
          "strand": "+",
          "slug": "serpinb11"
        },
        {
          "symbol": "SERPINB3",
          "ensemblId": "ENSG00000057149",
          "biotype": "protein_coding",
          "start": 63652584,
          "end": 63661893,
          "strand": "-",
          "slug": "serpinb3"
        },
        {
          "symbol": "SERPINB2",
          "ensemblId": "ENSG00000197632",
          "biotype": "protein_coding",
          "start": 63871692,
          "end": 63903888,
          "strand": "+",
          "slug": "serpinb2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289724",
          "biotype": "protein_coding",
          "start": 63897174,
          "end": 63917490,
          "strand": "+"
        },
        {
          "symbol": "SERPINB10",
          "ensemblId": "ENSG00000242550",
          "biotype": "protein_coding",
          "start": 63907958,
          "end": 63936111,
          "strand": "+",
          "slug": "serpinb10"
        },
        {
          "symbol": "HMSD",
          "ensemblId": "ENSG00000221887",
          "biotype": "protein_coding",
          "start": 63949277,
          "end": 63981774,
          "strand": "+",
          "slug": "hmsd"
        },
        {
          "symbol": "SERPINB8",
          "ensemblId": "ENSG00000166401",
          "biotype": "protein_coding",
          "start": 63970029,
          "end": 64019965,
          "strand": "+",
          "slug": "serpinb8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-palmoplantar-keratodermas",
        "name": "Erfelijke palmoplantaire keratodermieën en pachyonychia congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0019272",
            "name": "Erfelijke palmoplantaire keratodermie",
            "genes": 35,
            "inheritance": null,
            "description": "Erfelijke verdikking van de handpalmen en voetzolen, waaronder pachyonychia congenita, mal de Meleda, keratodermie van het Nagashima-type en Bothnische keratodermie, het keratitis-ichthyosis-doofheidssyndroom, en de met CTSC samenhangende Papillon-Lefèvre- en Haim-Munk-syndromen.",
            "management": "Een diagnose helpt bij de verzorging van de voeten en de behandeling van pijn; bij de met CTSC samenhangende vormen beschermt vroege tandheelkundige behandeling de tanden, en bij de met GJB2 samenhangende vormen is een gehoorcontrole aan te raden.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-palmoplantar-keratodermas"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "palmoplantar-hyperhidrosis",
        "name": "Excessive sweating of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperhidrosis"
      },
      {
        "slug": "hypergranulosis",
        "name": "Hypergranulosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypergranulosis"
      },
      {
        "slug": "maceration",
        "name": "Maceration",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/maceration"
      },
      {
        "slug": "orthokeratotic-hyperkeratosis",
        "name": "Orthokeratotic hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/orthokeratotic-hyperkeratosis"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "palmoplantar-hyperkeratosis",
        "name": "Thickening of the outer layer of the skin of the palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      }
    ],
    "related": [
      {
        "slug": "aagab",
        "symbol": "AAGAB",
        "name": "alpha and gamma adaptin binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aagab"
      },
      {
        "slug": "ap1b1",
        "symbol": "AP1B1",
        "name": "adaptor related protein complex 1 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ap1b1"
      },
      {
        "slug": "aqp5",
        "symbol": "AQP5",
        "name": "aquaporin 5",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aqp5"
      },
      {
        "slug": "ctsc",
        "symbol": "CTSC",
        "name": "cathepsin C",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ctsc"
      },
      {
        "slug": "dsg1",
        "symbol": "DSG1",
        "name": "desmoglein 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dsg1"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dsp"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "name": "gap junction protein alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gja1"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gjb2"
      },
      {
        "slug": "gjb3",
        "symbol": "GJB3",
        "name": "gap junction protein beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gjb3"
      },
      {
        "slug": "gjb4",
        "symbol": "GJB4",
        "name": "gap junction protein beta 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gjb4"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gjb6"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/grhl2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}