{
  "url": "https://dantelabs.com/es/genes/hps6",
  "gene": {
    "slug": "hps6",
    "symbol": "HPS6",
    "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3",
    "hgnc": "HGNC:18817",
    "summary": null,
    "location": "10q24.32",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ22501",
      "BLOC2S3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166189",
    "entrezId": 79803,
    "omim": [
      "607522"
    ],
    "uniprot": [
      "Q86YV9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 102065349,
      "end": 102068036,
      "strand": "+",
      "ensemblTranscript": "ENST00000299238.7",
      "refseqTranscript": "NM_024747.6",
      "ensemblProtein": "ENSP00000299238.5",
      "refseqProtein": "NP_079023.2",
      "exons": [
        {
          "start": 102065349,
          "end": 102068036
        }
      ],
      "cds": {
        "start": 102065475,
        "end": 102067802
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 103825147,
      "end": 103827792,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 101566693,
      "end": 102566692,
      "genes": [
        {
          "symbol": "DPCD",
          "ensemblId": "ENSG00000166171",
          "biotype": "protein_coding",
          "start": 101570560,
          "end": 101609667,
          "strand": "+",
          "slug": "dpcd"
        },
        {
          "symbol": "POLL",
          "ensemblId": "ENSG00000166169",
          "biotype": "protein_coding",
          "start": 101576051,
          "end": 101588273,
          "strand": "-",
          "slug": "poll"
        },
        {
          "symbol": "FBXW4",
          "ensemblId": "ENSG00000107829",
          "biotype": "protein_coding",
          "start": 101610663,
          "end": 101695298,
          "strand": "-",
          "slug": "fbxw4"
        },
        {
          "symbol": "FGF8",
          "ensemblId": "ENSG00000107831",
          "biotype": "protein_coding",
          "start": 101769817,
          "end": 101780371,
          "strand": "-",
          "slug": "fgf8"
        },
        {
          "symbol": "NPM3",
          "ensemblId": "ENSG00000107833",
          "biotype": "protein_coding",
          "start": 101781318,
          "end": 101783446,
          "strand": "-",
          "slug": "npm3"
        },
        {
          "symbol": "OGA",
          "ensemblId": "ENSG00000198408",
          "biotype": "protein_coding",
          "start": 101784443,
          "end": 101818620,
          "strand": "-",
          "slug": "oga"
        },
        {
          "symbol": "KCNIP2",
          "ensemblId": "ENSG00000120049",
          "biotype": "protein_coding",
          "start": 101825969,
          "end": 101844005,
          "strand": "-",
          "slug": "kcnip2"
        },
        {
          "symbol": "ARMH3",
          "ensemblId": "ENSG00000120029",
          "biotype": "protein_coding",
          "start": 101845599,
          "end": 102056262,
          "strand": "-",
          "slug": "armh3"
        },
        {
          "symbol": "LDB1",
          "ensemblId": "ENSG00000198728",
          "biotype": "protein_coding",
          "start": 102106489,
          "end": 102120451,
          "strand": "-",
          "slug": "ldb1"
        },
        {
          "symbol": "PPRC1",
          "ensemblId": "ENSG00000148840",
          "biotype": "protein_coding",
          "start": 102132994,
          "end": 102150333,
          "strand": "+",
          "slug": "pprc1"
        },
        {
          "symbol": "NOLC1",
          "ensemblId": "ENSG00000166197",
          "biotype": "protein_coding",
          "start": 102152170,
          "end": 102163875,
          "strand": "+",
          "slug": "nolc1"
        },
        {
          "symbol": "ELOVL3",
          "ensemblId": "ENSG00000119915",
          "biotype": "protein_coding",
          "start": 102226294,
          "end": 102229589,
          "strand": "+",
          "slug": "elovl3"
        },
        {
          "symbol": "PITX3",
          "ensemblId": "ENSG00000107859",
          "biotype": "protein_coding",
          "start": 102229754,
          "end": 102241512,
          "strand": "-",
          "slug": "pitx3"
        },
        {
          "symbol": "GBF1",
          "ensemblId": "ENSG00000107862",
          "biotype": "protein_coding",
          "start": 102245371,
          "end": 102382899,
          "strand": "+",
          "slug": "gbf1"
        },
        {
          "symbol": "NFKB2",
          "ensemblId": "ENSG00000077150",
          "biotype": "protein_coding",
          "start": 102394110,
          "end": 102402529,
          "strand": "+",
          "slug": "nfkb2"
        },
        {
          "symbol": "PSD",
          "ensemblId": "ENSG00000059915",
          "biotype": "protein_coding",
          "start": 102402614,
          "end": 102421539,
          "strand": "-",
          "slug": "psd"
        },
        {
          "symbol": "FBXL15",
          "ensemblId": "ENSG00000107872",
          "biotype": "protein_coding",
          "start": 102408835,
          "end": 102423142,
          "strand": "+",
          "slug": "fbxl15"
        },
        {
          "symbol": "CUEDC2",
          "ensemblId": "ENSG00000107874",
          "biotype": "protein_coding",
          "start": 102423239,
          "end": 102432718,
          "strand": "-",
          "slug": "cuedc2"
        },
        {
          "symbol": "C10orf95",
          "ensemblId": "ENSG00000120055",
          "biotype": "protein_coding",
          "start": 102449619,
          "end": 102451548,
          "strand": "-",
          "slug": "c10orf95"
        },
        {
          "symbol": "SLC68A1",
          "ensemblId": "ENSG00000138111",
          "biotype": "protein_coding",
          "start": 102461363,
          "end": 102477046,
          "strand": "+",
          "slug": "slc68a1"
        },
        {
          "symbol": "ACTR1A",
          "ensemblId": "ENSG00000138107",
          "biotype": "protein_coding",
          "start": 102461881,
          "end": 102502744,
          "strand": "-",
          "slug": "actr1a"
        },
        {
          "symbol": "SUFU",
          "ensemblId": "ENSG00000107882",
          "biotype": "protein_coding",
          "start": 102503952,
          "end": 102633535,
          "strand": "+",
          "slug": "sufu"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hermansky-pudlak-syndrome",
        "name": "Síndrome de Hermansky-Pudlak",
        "diseases": [
          {
            "mondoId": "MONDO:0019312",
            "name": "Síndrome de Hermansky-Pudlak",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "El síndrome de Hermansky-Pudlak (HSP) es un trastorno multisistémico caracterizado por albinismo oculocutáneo, diátesis hemorrágica y, en algunos casos, neutropenia, fibrosis pulmonar o colitis granulomatosa. El HPS comprende ocho trastornos conocidos (HPS-1 a HPS-8), la mayoría de los cuales presentan el mismo fenotipo clínico con distintos grados de gravedad.",
            "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/es/conditions/hermansky-pudlak-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "absent-foveal-reflex",
        "name": "Absent foveal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-foveal-reflex"
      },
      {
        "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": "frequent",
        "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": "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": "frequent",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "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": "ecchymosis",
        "name": "Ecchymosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ecchymosis"
      },
      {
        "slug": "endometriosis",
        "name": "Endometriosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/endometriosis"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "impaired-adp-induced-platelet-aggregation",
        "name": "Impaired ADP-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-adp-induced-platelet-aggregation"
      },
      {
        "slug": "impaired-arachidonic-acid-induced-platelet-aggregation",
        "name": "Impaired arachidonic acid-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-arachidonic-acid-induced-platelet-aggregation"
      },
      {
        "slug": "impaired-collagen-induced-platelet-aggregation",
        "name": "Impaired collagen-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-collagen-induced-platelet-aggregation"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iris-transillumination-defect",
        "name": "Iris transillumination defect",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-transillumination-defect"
      },
      {
        "slug": "neurogenic-bladder",
        "name": "Lack of bladder control due to nervous system injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neurogenic-bladder"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "bowel-incontinence",
        "name": "Loss of bowel control",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bowel-incontinence"
      },
      {
        "slug": "macular-hypoplasia",
        "name": "Macular hypoplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/macular-hypoplasia"
      },
      {
        "slug": "single-umbilical-artery",
        "name": "Only one artery in umbilical cord instead of two",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/single-umbilical-artery"
      },
      {
        "slug": "partial-albinism",
        "name": "Partial absent skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/partial-albinism"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      },
      {
        "slug": "perineal-fistula",
        "name": "Perineal fistula",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perineal-fistula"
      },
      {
        "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": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "rotary-nystagmus",
        "name": "Rotary nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rotary-nystagmus"
      }
    ],
    "related": [
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ap3b1"
      },
      {
        "slug": "ap3d1",
        "symbol": "AP3D1",
        "name": "adaptor related protein complex 3 subunit delta 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ap3d1"
      },
      {
        "slug": "bloc1s3",
        "symbol": "BLOC1S3",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/bloc1s3"
      },
      {
        "slug": "bloc1s5",
        "symbol": "BLOC1S5",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/bloc1s5"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/bloc1s6"
      },
      {
        "slug": "dtnbp1",
        "symbol": "DTNBP1",
        "name": "dystrobrevin binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/dtnbp1"
      },
      {
        "slug": "hps1",
        "symbol": "HPS1",
        "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/hps1"
      },
      {
        "slug": "hps3",
        "symbol": "HPS3",
        "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/hps3"
      },
      {
        "slug": "hps4",
        "symbol": "HPS4",
        "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/hps4"
      },
      {
        "slug": "hps5",
        "symbol": "HPS5",
        "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/hps5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}