{
  "url": "https://dantelabs.com/pl/genes/dtnbp1",
  "gene": {
    "slug": "dtnbp1",
    "symbol": "DTNBP1",
    "name": "dystrobrevin binding protein 1",
    "hgnc": "HGNC:17328",
    "summary": null,
    "location": "6p22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "Dysbindin",
      "My031",
      "HPS7",
      "DBND",
      "BLOC1S8"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000047579",
    "entrezId": 84062,
    "omim": [
      "607145"
    ],
    "uniprot": [
      "Q96EV8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 15522807,
      "end": 15663028,
      "strand": "-",
      "ensemblTranscript": "ENST00000344537.10",
      "refseqTranscript": "NM_032122.5",
      "ensemblProtein": "ENSP00000341680.6",
      "refseqProtein": "NP_115498.2",
      "exons": [
        {
          "start": 15522807,
          "end": 15523219
        },
        {
          "start": 15524526,
          "end": 15524669
        },
        {
          "start": 15533240,
          "end": 15533395
        },
        {
          "start": 15593059,
          "end": 15593081
        },
        {
          "start": 15615267,
          "end": 15615399
        },
        {
          "start": 15627343,
          "end": 15627475
        },
        {
          "start": 15637744,
          "end": 15637804
        },
        {
          "start": 15651313,
          "end": 15651363
        },
        {
          "start": 15652087,
          "end": 15652140
        },
        {
          "start": 15662814,
          "end": 15663028
        }
      ],
      "cds": {
        "start": 15522975,
        "end": 15662869
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 15523032,
      "end": 15663289,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 15092918,
      "end": 16092917,
      "genes": [
        {
          "symbol": "JARID2",
          "ensemblId": "ENSG00000008083",
          "biotype": "protein_coding",
          "start": 15244937,
          "end": 15522042,
          "strand": "+",
          "slug": "jarid2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hermansky-pudlak-syndrome",
        "name": "Zespół Hermanskyego-Pudlaka",
        "diseases": [
          {
            "mondoId": "MONDO:0019312",
            "name": "Zespół Hermanskyego-Pudlaka",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "Zespół Hermanskyego-Pudlaka (HPS) to choroba wielonarządowa charakteryzująca się bielactwem oczno-skórnym, skazą krwotoczną oraz, w niektórych przypadkach, neutropenią, włóknieniem płuc lub ziarniniakowym zapaleniem jelita grubego. Wyróżnia się osiem znanych typów tego zespołu (HPS-1 do HPS-8), z których większość ma ten sam obraz kliniczny, o różnym nasileniu.",
            "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/pl/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": "obligate",
        "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"
        ],
        "url": "https://dantelabs.com/traits/albinism"
      },
      {
        "slug": "post-partum-hemorrhage",
        "name": "Bleeding post-delivery",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/post-partum-hemorrhage"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "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": "persistent-bleeding-after-trauma",
        "name": "Excessive bleeding after minor trauma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/persistent-bleeding-after-trauma"
      },
      {
        "slug": "impaired-platelet-aggregation",
        "name": "Impaired platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-platelet-aggregation"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "prolonged-bleeding-after-dental-extraction",
        "name": "Prolonged bleeding after dental extraction",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction"
      },
      {
        "slug": "prolonged-bleeding-time",
        "name": "Prolonged bleeding time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-time"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ap3b1"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ap3d1"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bloc1s3"
      },
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bloc1s5"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bloc1s6"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/hps1"
      },
      {
        "slug": "hps3",
        "symbol": "HPS3",
        "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/hps3"
      },
      {
        "slug": "hps4",
        "symbol": "HPS4",
        "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/hps4"
      },
      {
        "slug": "hps5",
        "symbol": "HPS5",
        "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/hps5"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/hps6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}