{
  "url": "https://dantelabs.com/fi/genes/bloc1s6",
  "gene": {
    "slug": "bloc1s6",
    "symbol": "BLOC1S6",
    "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
    "hgnc": "HGNC:8549",
    "summary": null,
    "location": "15q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "HPS9"
    ],
    "previousSymbols": [
      "PA",
      "PLDN"
    ],
    "ensemblId": "ENSG00000104164",
    "entrezId": 26258,
    "omim": [
      "604310"
    ],
    "uniprot": [
      "Q9UL45"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 45587379,
      "end": 45609708,
      "strand": "+",
      "ensemblTranscript": "ENST00000220531.9",
      "refseqTranscript": "NM_012388.4",
      "ensemblProtein": "ENSP00000220531.4",
      "refseqProtein": "NP_036520.1",
      "exons": [
        {
          "start": 45587379,
          "end": 45587525
        },
        {
          "start": 45592135,
          "end": 45592276
        },
        {
          "start": 45603100,
          "end": 45603187
        },
        {
          "start": 45605428,
          "end": 45605514
        },
        {
          "start": 45606395,
          "end": 45609708
        }
      ],
      "cds": {
        "start": 45587444,
        "end": 45606514
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 45879321,
      "end": 45908197,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 45098544,
      "end": 46098543,
      "genes": [
        {
          "symbol": "DUOX2",
          "ensemblId": "ENSG00000140279",
          "biotype": "protein_coding",
          "start": 45092650,
          "end": 45114185,
          "strand": "-",
          "slug": "duox2"
        },
        {
          "symbol": "DUOXA2",
          "ensemblId": "ENSG00000140274",
          "biotype": "protein_coding",
          "start": 45114325,
          "end": 45118421,
          "strand": "+",
          "slug": "duoxa2"
        },
        {
          "symbol": "DUOXA1",
          "ensemblId": "ENSG00000140254",
          "biotype": "protein_coding",
          "start": 45117364,
          "end": 45130611,
          "strand": "-",
          "slug": "duoxa1"
        },
        {
          "symbol": "DUOX1",
          "ensemblId": "ENSG00000137857",
          "biotype": "protein_coding",
          "start": 45129450,
          "end": 45165576,
          "strand": "+",
          "slug": "duox1"
        },
        {
          "symbol": "SHF",
          "ensemblId": "ENSG00000138606",
          "biotype": "protein_coding",
          "start": 45165572,
          "end": 45201175,
          "strand": "-",
          "slug": "shf"
        },
        {
          "symbol": "SLC28A2",
          "ensemblId": "ENSG00000137860",
          "biotype": "protein_coding",
          "start": 45252227,
          "end": 45277846,
          "strand": "+",
          "slug": "slc28a2"
        },
        {
          "symbol": "GATM",
          "ensemblId": "ENSG00000171766",
          "biotype": "protein_coding",
          "start": 45333479,
          "end": 45402327,
          "strand": "-",
          "slug": "gatm"
        },
        {
          "symbol": "AFG2B",
          "ensemblId": "ENSG00000171763",
          "biotype": "protein_coding",
          "start": 45402325,
          "end": 45421415,
          "strand": "+",
          "slug": "afg2b"
        },
        {
          "symbol": "COXFA4L3",
          "ensemblId": "ENSG00000166920",
          "biotype": "protein_coding",
          "start": 45430579,
          "end": 45448761,
          "strand": "+",
          "slug": "coxfa4l3"
        },
        {
          "symbol": "SLC30A4",
          "ensemblId": "ENSG00000104154",
          "biotype": "protein_coding",
          "start": 45479606,
          "end": 45522834,
          "strand": "-",
          "slug": "slc30a4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260170",
          "biotype": "protein_coding",
          "start": 45587351,
          "end": 45676314,
          "strand": "+"
        },
        {
          "symbol": "SQOR",
          "ensemblId": "ENSG00000137767",
          "biotype": "protein_coding",
          "start": 45631148,
          "end": 45691299,
          "strand": "+",
          "slug": "sqor"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hermansky-pudlak-syndrome",
        "name": "Hermansky-Pudlakin oireyhtymä",
        "diseases": [
          {
            "mondoId": "MONDO:0019312",
            "name": "Hermansky-Pudlakin oireyhtymä",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "Hermansky-Pudlakin oireyhtymä (HPS) on monielinsairaus, jolle ovat ominaisia okulokutaaninen albinismi, verenvuototaipumus ja joissakin tapauksissa neutropenia, keuhkofibroosi tai granulomatoottinen koliitti. HPS käsittää kahdeksan tunnettua sairausmuotoa (HPS-1–HPS-8), joista useimmat ilmenevät samanlaisena kliinisenä fenotyyppinä vaihtelevalla vakavuusasteella.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hermansky-pudlak-syndrome"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Muut synnynnäiset immuunijärjestelmän häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Perinnöllinen immuunipuutos",
            "genes": 114,
            "inheritance": null,
            "description": "Immuunijärjestelmän perinnölliset häiriöt, joita aiheuttavat yksittäisten geenien muutokset ja jotka vaikuttavat siihen, miten elimistö torjuu infektioita tai säätelee tulehdusta.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ocular-albinism",
        "name": "Absent pigmentation in the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ocular-albinism"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      }
    ],
    "related": [
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ap3b1"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/adar"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aicda"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ap3d1"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/blnk"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bloc1s3"
      },
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bloc1s5"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/c1qa"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}