{
  "url": "https://dantelabs.com/nl/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-syndroom",
        "diseases": [
          {
            "mondoId": "MONDO:0019312",
            "name": "Hermansky-Pudlak-syndroom",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "Het Hermansky-Pudlak-syndroom (HPS) is een aandoening die meerdere organystemen aantast en wordt gekenmerkt door oculocutane albinisme, een neiging tot bloeden en, in sommige gevallen, neutropenie, longfibrose of granulomateuze colitis. HPS omvat acht bekende aandoeningen (HPS-1 tot en met HPS-8), waarvan de meeste zich met hetzelfde klinische beeld voordoen, zij het in verschillende mate van ernst.",
            "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/nl/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/nl/genes/ap3b1"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ap3d1"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bloc1s3"
      },
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bloc1s5"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bloc1s6"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hps1"
      },
      {
        "slug": "hps3",
        "symbol": "HPS3",
        "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hps3"
      },
      {
        "slug": "hps4",
        "symbol": "HPS4",
        "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hps4"
      },
      {
        "slug": "hps5",
        "symbol": "HPS5",
        "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hps5"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hps6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}