{
  "url": "https://dantelabs.com/sv/genes/bloc1s5",
  "gene": {
    "slug": "bloc1s5",
    "symbol": "BLOC1S5",
    "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
    "hgnc": "HGNC:18561",
    "summary": null,
    "location": "6p24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MU",
      "dJ303A1.3"
    ],
    "previousSymbols": [
      "MUTED"
    ],
    "ensemblId": "ENSG00000188428",
    "entrezId": 63915,
    "omim": [
      "607289"
    ],
    "uniprot": [
      "Q8TDH9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 8013567,
      "end": 8064389,
      "strand": "-",
      "ensemblTranscript": "ENST00000397457.7",
      "refseqTranscript": "NM_201280.3",
      "ensemblProtein": "ENSP00000380598.2",
      "refseqProtein": "NP_958437.1",
      "exons": [
        {
          "start": 8013567,
          "end": 8015828
        },
        {
          "start": 8026367,
          "end": 8026425
        },
        {
          "start": 8041139,
          "end": 8041268
        },
        {
          "start": 8062534,
          "end": 8062616
        },
        {
          "start": 8064265,
          "end": 8064389
        }
      ],
      "cds": {
        "start": 8015649,
        "end": 8064376
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 8013800,
      "end": 8064647,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 7538978,
      "end": 8538977,
      "genes": [
        {
          "symbol": "DSP",
          "ensemblId": "ENSG00000096696",
          "biotype": "protein_coding",
          "start": 7541320,
          "end": 7586717,
          "strand": "+",
          "slug": "dsp"
        },
        {
          "symbol": "SNRNP48",
          "ensemblId": "ENSG00000168566",
          "biotype": "protein_coding",
          "start": 7590181,
          "end": 7612832,
          "strand": "+",
          "slug": "snrnp48"
        },
        {
          "symbol": "BMP6",
          "ensemblId": "ENSG00000153162",
          "biotype": "protein_coding",
          "start": 7726049,
          "end": 7881730,
          "strand": "+",
          "slug": "bmp6"
        },
        {
          "symbol": "TXNDC5",
          "ensemblId": "ENSG00000239264",
          "biotype": "protein_coding",
          "start": 7881440,
          "end": 7911011,
          "strand": "-",
          "slug": "txndc5"
        },
        {
          "symbol": "BLOC1S5-TXNDC5",
          "ensemblId": "ENSG00000259040",
          "biotype": "protein_coding",
          "start": 7881522,
          "end": 8064364,
          "strand": "-",
          "slug": "bloc1s5-txndc5"
        },
        {
          "symbol": "EEF1E1-BLOC1S5",
          "ensemblId": "ENSG00000265818",
          "biotype": "protein_coding",
          "start": 8015726,
          "end": 8102530,
          "strand": "-",
          "slug": "eef1e1-bloc1s5"
        },
        {
          "symbol": "EEF1E1",
          "ensemblId": "ENSG00000124802",
          "biotype": "protein_coding",
          "start": 8073259,
          "end": 8102625,
          "strand": "-",
          "slug": "eef1e1"
        },
        {
          "symbol": "SLC35B3",
          "ensemblId": "ENSG00000124786",
          "biotype": "protein_coding",
          "start": 8411435,
          "end": 8435983,
          "strand": "-",
          "slug": "slc35b3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hermansky-pudlak-syndrome",
        "name": "Hermansky-Pudlak-syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0019312",
            "name": "Hermansky-Pudlak-syndrom",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "Hermansky-Pudlak-syndrom (HPS) är en sjukdom med påverkan på flera organsystem som kännetecknas av okulokutan albinism, blödningsbenägenhet och i vissa fall neutropeni, lungfibros eller granulomatös kolit. HPS omfattar åtta kända sjukdomar (HPS-1 till HPS-8), och majoriteten av dem uppvisar samma kliniska fenotyp i varierande grad av svårighetsgrad.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hermansky-pudlak-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "menorrhagia",
        "name": "Abnormally heavy bleeding during menstruation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/menorrhagia"
      },
      {
        "slug": "ocular-albinism",
        "name": "Absent pigmentation in the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ocular-albinism"
      },
      {
        "slug": "albinism",
        "name": "Albinism",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/albinism"
      },
      {
        "slug": "melanocytic-nevus",
        "name": "Beauty mark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/melanocytic-nevus"
      },
      {
        "slug": "gingival-bleeding",
        "name": "Bleeding gums",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gingival-bleeding"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "fair-hair",
        "name": "Fair hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fair-hair"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "impaired-collagen-induced-platelet-aggregation",
        "name": "Impaired collagen-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-collagen-induced-platelet-aggregation"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iris-transillumination-defect",
        "name": "Iris transillumination defect",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/iris-transillumination-defect"
      },
      {
        "slug": "reduced-platelet-dense-granules",
        "name": "Reduced platelet dense granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-platelet-dense-granules"
      }
    ],
    "related": [
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap3b1"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap3d1"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bloc1s3"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bloc1s6"
      },
      {
        "slug": "dtnbp1",
        "symbol": "DTNBP1",
        "name": "dystrobrevin binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dtnbp1"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hps1"
      },
      {
        "slug": "hps3",
        "symbol": "HPS3",
        "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hps3"
      },
      {
        "slug": "hps4",
        "symbol": "HPS4",
        "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hps4"
      },
      {
        "slug": "hps5",
        "symbol": "HPS5",
        "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hps5"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/hps6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}