{
  "url": "https://dantelabs.com/de/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": "Hermansky-Pudlak-Syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0019312",
            "name": "Hermansky-Pudlak-Syndrom",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "Das Hermansky-Pudlak-Syndrom (HPS) ist eine Multisystemerkrankung, die durch okulokutanen Albinismus, eine erhöhte Blutungsneigung und in einigen Fällen durch Neutropenie, Lungenfibrose oder granulomatöse Kolitis gekennzeichnet ist. Das HPS umfasst acht bekannte Formen (HPS-1 bis HPS-8), von denen die meisten ein ähnliches klinisches Erscheinungsbild mit unterschiedlichen Schweregraden aufweisen.",
            "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/de/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/de/genes/ap3b1"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ap3d1"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bloc1s3"
      },
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bloc1s5"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bloc1s6"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/hps1"
      },
      {
        "slug": "hps3",
        "symbol": "HPS3",
        "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/hps3"
      },
      {
        "slug": "hps4",
        "symbol": "HPS4",
        "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/hps4"
      },
      {
        "slug": "hps5",
        "symbol": "HPS5",
        "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/hps5"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/hps6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}