{
  "url": "https://dantelabs.com/nl/genes/npc1",
  "gene": {
    "slug": "npc1",
    "symbol": "NPC1",
    "name": "NPC intracellular cholesterol transporter 1",
    "hgnc": "HGNC:7897",
    "summary": null,
    "location": "18q11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SLC65A1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000141458",
    "entrezId": 4864,
    "omim": [
      "607623"
    ],
    "uniprot": [
      "O15118"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 23531442,
      "end": 23586506,
      "strand": "-",
      "ensemblTranscript": "ENST00000269228.10",
      "refseqTranscript": "NM_000271.5",
      "ensemblProtein": "ENSP00000269228.4",
      "refseqProtein": "NP_000262.2",
      "exons": [
        {
          "start": 23531442,
          "end": 23532284
        },
        {
          "start": 23533355,
          "end": 23533517
        },
        {
          "start": 23534446,
          "end": 23534559
        },
        {
          "start": 23535469,
          "end": 23535700
        },
        {
          "start": 23536673,
          "end": 23536876
        },
        {
          "start": 23538542,
          "end": 23538671
        },
        {
          "start": 23539355,
          "end": 23539470
        },
        {
          "start": 23539811,
          "end": 23540001
        },
        {
          "start": 23540448,
          "end": 23540537
        },
        {
          "start": 23541068,
          "end": 23541208
        },
        {
          "start": 23541306,
          "end": 23541433
        },
        {
          "start": 23543455,
          "end": 23543569
        },
        {
          "start": 23544344,
          "end": 23544526
        },
        {
          "start": 23544960,
          "end": 23545149
        },
        {
          "start": 23548006,
          "end": 23548108
        },
        {
          "start": 23551627,
          "end": 23551727
        },
        {
          "start": 23554758,
          "end": 23554984
        },
        {
          "start": 23556243,
          "end": 23556613
        },
        {
          "start": 23557117,
          "end": 23557190
        },
        {
          "start": 23560231,
          "end": 23560480
        },
        {
          "start": 23561360,
          "end": 23561527
        },
        {
          "start": 23568823,
          "end": 23568998
        },
        {
          "start": 23572074,
          "end": 23572180
        },
        {
          "start": 23573452,
          "end": 23573574
        },
        {
          "start": 23586287,
          "end": 23586506
        }
      ],
      "cds": {
        "start": 23532202,
        "end": 23586343
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 21086148,
      "end": 21166862,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 23058974,
      "end": 24058973,
      "genes": [
        {
          "symbol": "CABLES1",
          "ensemblId": "ENSG00000134508",
          "biotype": "protein_coding",
          "start": 23134564,
          "end": 23260470,
          "strand": "+",
          "slug": "cables1"
        },
        {
          "symbol": "SLC35D4",
          "ensemblId": "ENSG00000134490",
          "biotype": "protein_coding",
          "start": 23197144,
          "end": 23437976,
          "strand": "-",
          "slug": "slc35d4"
        },
        {
          "symbol": "RIOK3",
          "ensemblId": "ENSG00000101782",
          "biotype": "protein_coding",
          "start": 23453265,
          "end": 23486603,
          "strand": "+",
          "slug": "riok3"
        },
        {
          "symbol": "RMC1",
          "ensemblId": "ENSG00000141452",
          "biotype": "protein_coding",
          "start": 23503460,
          "end": 23533181,
          "strand": "+",
          "slug": "rmc1"
        },
        {
          "symbol": "ANKRD29",
          "ensemblId": "ENSG00000154065",
          "biotype": "protein_coding",
          "start": 23598926,
          "end": 23663558,
          "strand": "-",
          "slug": "ankrd29"
        },
        {
          "symbol": "LAMA3",
          "ensemblId": "ENSG00000053747",
          "biotype": "protein_coding",
          "start": 23689414,
          "end": 23957475,
          "strand": "+",
          "slug": "lama3"
        },
        {
          "symbol": "TTC39C",
          "ensemblId": "ENSG00000168234",
          "biotype": "protein_coding",
          "start": 23992773,
          "end": 24135970,
          "strand": "+",
          "slug": "ttc39c"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "niemann-pick-disease-type-c",
        "name": "Niemann-Pick-ziekte type C",
        "diseases": [
          {
            "mondoId": "MONDO:0018982",
            "name": "Niemann-Pick-ziekte type C",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "NPC is een complexe lipideopslagziekte die vooral wordt gekenmerkt door de opstapeling van ongeësterificeerd cholesterol in het late endosomale/lysosomale compartiment.",
            "management": "NPC: miglustat (Zavesca, goedgekeurd in de EU); arimoclomol (in klinische onderzoeken); types A/B: olipudase alfa (Xenpozyme, in 2022 goedgekeurd voor niet-neurologische manifestaties); ondersteunende zorg; miglustat vóór moleculaire bevestiging kan worden overwogen gezien de diagnostische moeilijkheid",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "Myriad Women's Health",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/niemann-pick-disease-type-c"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lysosomale opslagziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomale stapelingsziekte (overige en niet-gespecificeerde typen)",
            "genes": 59,
            "inheritance": null,
            "description": "Behandelt lysosomale stapelingsziekten zonder eigen rapport, zoals de ziekte van Farber en andere ASAH1-gerelateerde aandoeningen, prosaposine (PSAP)-deficiënties, meervoudige sulfatase-deficiëntie, mucopolysaccharidose type IX en X, en de ziekte van Dorfman-Chanarin; de overerving verschilt per subtype en is meestal autosomaal recessief.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "Myriad Women's Health",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "bone-marrow-foam-cells",
        "name": "Bone-marrow foam cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/bone-marrow-foam-cells"
      },
      {
        "slug": "cataplexy",
        "name": "Cataplexy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cataplexy"
      },
      {
        "slug": "cns-foam-cells",
        "name": "CNS foam cells",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cns-foam-cells"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-c-triol-concentration",
        "name": "Elevated circulating C-triol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-c-triol-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fatal-liver-failure-in-infancy",
        "name": "Fatal liver failure in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/fatal-liver-failure-in-infancy"
      },
      {
        "slug": "fetal-ascites",
        "name": "Fetal ascites",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/fetal-ascites"
      },
      {
        "slug": "foam-cells",
        "name": "Foam cells",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/foam-cells"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "neuronal-loss-in-central-nervous-system",
        "name": "Loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system"
      },
      {
        "slug": "loss-of-speech",
        "name": "Loss of speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-speech"
      },
      {
        "slug": "low-cholesterol-esterification-rate",
        "name": "Low cholesterol esterification rate",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-cholesterol-esterification-rate"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neurofibrillary-tangles",
        "name": "Neurofibrillary tangles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neurofibrillary-tangles"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "sea-blue-histiocytosis",
        "name": "Sea-blue histiocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sea-blue-histiocytosis"
      },
      {
        "slug": "unesterified-cholesterol-accumulation-in-cultured-fibroblasts",
        "name": "Unesterified cholesterol accumulation in cultured fibroblasts",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/unesterified-cholesterol-accumulation-in-cultured-fibroblasts"
      },
      {
        "slug": "vertical-supranuclear-gaze-palsy",
        "name": "Vertical supranuclear gaze palsy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/vertical-supranuclear-gaze-palsy"
      }
    ],
    "related": [
      {
        "slug": "npc2",
        "symbol": "NPC2",
        "name": "NPC intracellular cholesterol transporter 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/npc2"
      },
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/abhd5"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aga"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ap5z1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arsa"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "name": "arylsulfatase B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arsb"
      },
      {
        "slug": "arsk",
        "symbol": "ARSK",
        "name": "arylsulfatase family member K",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arsk"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "name": "N-acylsphingosine amidohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/asah1"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cln3"
      },
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cln6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-e609d43e",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}