{
  "url": "https://dantelabs.com/fr/genes/hps4",
  "gene": {
    "slug": "hps4",
    "symbol": "HPS4",
    "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
    "hgnc": "HGNC:15844",
    "summary": null,
    "location": "22q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA1667",
      "LE",
      "BLOC3S2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000100099",
    "entrezId": 89781,
    "omim": [
      "606682"
    ],
    "uniprot": [
      "Q9NQG7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 26450882,
      "end": 26483783,
      "strand": "-",
      "ensemblTranscript": "ENST00000398145.7",
      "refseqTranscript": "NM_022081.6",
      "ensemblProtein": "ENSP00000381213.2",
      "refseqProtein": "NP_071364.4",
      "exons": [
        {
          "start": 26450882,
          "end": 26453404
        },
        {
          "start": 26457859,
          "end": 26457967
        },
        {
          "start": 26458445,
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          "end": 26464826
        },
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        },
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        },
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        },
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        },
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        },
        {
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        },
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        },
        {
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        },
        {
          "start": 26481722,
          "end": 26482240
        },
        {
          "start": 26483674,
          "end": 26483783
        }
      ],
      "cds": {
        "start": 26453233,
        "end": 26481762
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 26839389,
      "end": 26879803,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 25967333,
      "end": 26967332,
      "genes": [
        {
          "symbol": "MYO18B",
          "ensemblId": "ENSG00000133454",
          "biotype": "protein_coding",
          "start": 25742142,
          "end": 26031045,
          "strand": "+",
          "slug": "myo18b"
        },
        {
          "symbol": "SEZ6L",
          "ensemblId": "ENSG00000100095",
          "biotype": "protein_coding",
          "start": 26169120,
          "end": 26383597,
          "strand": "+",
          "slug": "sez6l"
        },
        {
          "symbol": "ASPHD2",
          "ensemblId": "ENSG00000128203",
          "biotype": "protein_coding",
          "start": 26428729,
          "end": 26445015,
          "strand": "+",
          "slug": "asphd2"
        },
        {
          "symbol": "SRRD",
          "ensemblId": "ENSG00000100104",
          "biotype": "protein_coding",
          "start": 26483858,
          "end": 26494658,
          "strand": "+",
          "slug": "srrd"
        },
        {
          "symbol": "TFIP11",
          "ensemblId": "ENSG00000100109",
          "biotype": "protein_coding",
          "start": 26490722,
          "end": 26512505,
          "strand": "-",
          "slug": "tfip11"
        },
        {
          "symbol": "TPST2",
          "ensemblId": "ENSG00000128294",
          "biotype": "protein_coding",
          "start": 26521996,
          "end": 26596717,
          "strand": "-",
          "slug": "tpst2"
        },
        {
          "symbol": "CRYBB1",
          "ensemblId": "ENSG00000100122",
          "biotype": "protein_coding",
          "start": 26599277,
          "end": 26619630,
          "strand": "-",
          "slug": "crybb1"
        },
        {
          "symbol": "CRYBA4",
          "ensemblId": "ENSG00000196431",
          "biotype": "protein_coding",
          "start": 26621958,
          "end": 26630669,
          "strand": "+",
          "slug": "cryba4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hermansky-pudlak-syndrome",
        "name": "Syndrome d'Hermansky-Pudlak",
        "diseases": [
          {
            "mondoId": "MONDO:0019312",
            "name": "Syndrome d'Hermansky-Pudlak",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "Le syndrome d'Hermansky-Pudlak (HSP) est une affection multisystémique caractérisée par un albinisme oculo-cutané, une diathèse hémorragique et, dans certains cas, une neutropénie, une fibrose pulmonaire ou une colite granulomateuse. Le HPS regroupe huit formes connues (HPS-1 à HPS-8), dont la majorité présente le même phénotype clinique à des degrés de gravité variables.",
            "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/fr/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"
        ],
        "url": "https://dantelabs.com/traits/ocular-albinism"
      },
      {
        "slug": "absent-platelet-dense-granules",
        "name": "Absent platelet dense granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-platelet-dense-granules"
      },
      {
        "slug": "albinism",
        "name": "Albinism",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/albinism"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "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": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      }
    ],
    "related": [
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap3b1"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap3d1"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bloc1s3"
      },
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bloc1s5"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bloc1s6"
      },
      {
        "slug": "dtnbp1",
        "symbol": "DTNBP1",
        "name": "dystrobrevin binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dtnbp1"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/hps1"
      },
      {
        "slug": "hps3",
        "symbol": "HPS3",
        "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/hps3"
      },
      {
        "slug": "hps5",
        "symbol": "HPS5",
        "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/hps5"
      },
      {
        "slug": "hps6",
        "symbol": "HPS6",
        "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/hps6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}