{
  "url": "https://dantelabs.com/nl/genes/cln8",
  "gene": {
    "slug": "cln8",
    "symbol": "CLN8",
    "name": "CLN8 transmembrane ER and ERGIC protein",
    "hgnc": "HGNC:2079",
    "summary": null,
    "location": "8p23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ39417",
      "TLCD6"
    ],
    "previousSymbols": [
      "EPMR",
      "C8orf61"
    ],
    "ensemblId": "ENSG00000182372",
    "entrezId": 2055,
    "omim": [
      "607837"
    ],
    "uniprot": [
      "Q9UBY8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 1763789,
      "end": 1786570,
      "strand": "+",
      "ensemblTranscript": "ENST00000331222.6",
      "refseqTranscript": "NM_018941.4",
      "ensemblProtein": "ENSP00000328182.4",
      "refseqProtein": "NP_061764.2",
      "exons": [
        {
          "start": 1763789,
          "end": 1763885
        },
        {
          "start": 1770932,
          "end": 1771597
        },
        {
          "start": 1780250,
          "end": 1786570
        }
      ],
      "cds": {
        "start": 1771055,
        "end": 1780567
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 1703944,
      "end": 1734738,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 1275180,
      "end": 2275179,
      "genes": [
        {
          "symbol": "DLGAP2",
          "ensemblId": "ENSG00000198010",
          "biotype": "protein_coding",
          "start": 737627,
          "end": 1708476,
          "strand": "+",
          "slug": "dlgap2"
        },
        {
          "symbol": "KBTBD11-OT1",
          "ensemblId": "ENSG00000283239",
          "biotype": "protein_coding",
          "start": 1763888,
          "end": 1958627,
          "strand": "+"
        },
        {
          "symbol": "ARHGEF10",
          "ensemblId": "ENSG00000104728",
          "biotype": "protein_coding",
          "start": 1823332,
          "end": 1958642,
          "strand": "+",
          "slug": "arhgef10"
        },
        {
          "symbol": "KBTBD11",
          "ensemblId": "ENSG00000176595",
          "biotype": "protein_coding",
          "start": 1973516,
          "end": 2006937,
          "strand": "+",
          "slug": "kbtbd11"
        },
        {
          "symbol": "MYOM2",
          "ensemblId": "ENSG00000036448",
          "biotype": "protein_coding",
          "start": 2036919,
          "end": 2165552,
          "strand": "+",
          "slug": "myom2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "neuronal-ceroid-lipofuscinosis",
        "name": "Neuronale Ceroïde Lipofuscinose",
        "diseases": [
          {
            "mondoId": "MONDO:0016295",
            "name": "Neuronale Ceroïde Lipofuscinose",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "Een groep erfelijke, progressieve degeneratieve hersenziekten die klinisch worden gekenmerkt door een afname van geestelijke en andere vermogens, epilepsie en verlies van het gezichtsvermogen door netvliesdegeneratie, en histopathologisch door de intracellulaire ophoping van een autofluorescerend materiaal, ceroïde lipofuscine, in de neuronale cellen in de hersenen en in het netvlies.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/neuronal-ceroid-lipofuscinosis"
      },
      {
        "slug": "epilepsy-report",
        "name": "Epilepsie (volledig panel)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsie",
            "genes": 171,
            "inheritance": null,
            "description": "Een hersenaandoening die wordt gekenmerkt door episodes van abnormaal verhoogde neuronale ontlading, die leiden tot tijdelijke episodes van sensorische of motorische neurologische stoornissen, of psychische stoornissen. Deze episodes kunnen al dan niet gepaard gaan met bewustzijnsverlies of convulsies.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/epilepsy-report"
      },
      {
        "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": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "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": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormality-of-pattern-visual-evoked-potentials",
        "name": "Abnormality of pattern visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-pattern-visual-evoked-potentials"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "curvilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material",
        "name": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/curvilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "difficulty-standing",
        "name": "Difficulty in standing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/difficulty-standing"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "eeg-with-abnormally-slow-frequencies",
        "name": "EEG with abnormally slow frequencies",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-abnormally-slow-frequencies"
      },
      {
        "slug": "eeg-with-generalized-epileptiform-discharges",
        "name": "EEG with generalized epileptiform discharges",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-generalized-epileptiform-discharges"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fingerprint-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material",
        "name": "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fingerprint-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "gastrostomy-tube-feeding-in-infancy",
        "name": "Gastrostomy tube feeding in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "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": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "increased-neuronal-autofluorescent-lipopigment",
        "name": "Increased neuronal autofluorescent lipopigment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-neuronal-autofluorescent-lipopigment"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intracellular-accumulation-of-autofluorescent-lipopigment-storage-material",
        "name": "Intracellular accumulation of autofluorescent lipopigment storage material",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intracellular-accumulation-of-autofluorescent-lipopigment-storage-material"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "loss-of-speech",
        "name": "Loss of speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-speech"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "motor-regression",
        "name": "Motor regression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-regression"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "motor-deterioration",
        "name": "Progressive degeneration of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-deterioration"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "restlessness",
        "name": "Restlessness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/restlessness"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "t2-hypointense-thalamus",
        "name": "T2 hypointense thalamus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/t2-hypointense-thalamus"
      },
      {
        "slug": "undetectable-electroretinogram",
        "name": "Undetectable electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/undetectable-electroretinogram"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "vascular-granular-osmiophilic-material-deposition",
        "name": "Vascular granular osmiophilic material deposition",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vascular-granular-osmiophilic-material-deposition"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "kctd7",
        "symbol": "KCTD7",
        "name": "potassium channel tetramerization domain containing 7",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/kctd7"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/cln3"
      },
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/cln6"
      },
      {
        "slug": "ctsd",
        "symbol": "CTSD",
        "name": "cathepsin D",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ctsd"
      },
      {
        "slug": "ctsf",
        "symbol": "CTSF",
        "name": "cathepsin F",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ctsf"
      },
      {
        "slug": "dnajc5",
        "symbol": "DNAJC5",
        "name": "DnaJ heat shock protein family (Hsp40) member C5",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dnajc5"
      },
      {
        "slug": "grn",
        "symbol": "GRN",
        "name": "granulin precursor",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/grn"
      },
      {
        "slug": "mfsd8",
        "symbol": "MFSD8",
        "name": "major facilitator superfamily domain containing 8",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/mfsd8"
      },
      {
        "slug": "ppt1",
        "symbol": "PPT1",
        "name": "palmitoyl-protein thioesterase 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ppt1"
      },
      {
        "slug": "tpp1",
        "symbol": "TPP1",
        "name": "tripeptidyl peptidase 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/tpp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}