{
  "url": "https://dantelabs.com/genes/cln6",
  "gene": {
    "slug": "cln6",
    "symbol": "CLN6",
    "name": "CLN6 transmembrane ER protein",
    "hgnc": "HGNC:2077",
    "summary": null,
    "location": "15q23",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ20561",
      "HsT18960",
      "nclf"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000128973",
    "entrezId": 54982,
    "omim": [
      "606725"
    ],
    "uniprot": [
      "Q9NWW5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 68206992,
      "end": 68229728,
      "strand": "-",
      "ensemblTranscript": "ENST00000249806.11",
      "refseqTranscript": "NM_017882.3",
      "ensemblProtein": "ENSP00000249806.5",
      "refseqProtein": "NP_060352.1",
      "exons": [
        {
          "start": 68206992,
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        },
        {
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        },
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        },
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        },
        {
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        }
      ],
      "cds": {
        "start": 68208140,
        "end": 68229584
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 68499330,
      "end": 68549549,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 67718360,
      "end": 68718359,
      "genes": [
        {
          "symbol": "MAP2K5",
          "ensemblId": "ENSG00000137764",
          "biotype": "protein_coding",
          "start": 67542611,
          "end": 67807123,
          "strand": "+",
          "slug": "map2k5"
        },
        {
          "symbol": "SKOR1",
          "ensemblId": "ENSG00000188779",
          "biotype": "protein_coding",
          "start": 67819704,
          "end": 67834582,
          "strand": "+",
          "slug": "skor1"
        },
        {
          "symbol": "PIAS1",
          "ensemblId": "ENSG00000033800",
          "biotype": "protein_coding",
          "start": 68054260,
          "end": 68198603,
          "strand": "+",
          "slug": "pias1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260007",
          "biotype": "protein_coding",
          "start": 68184032,
          "end": 68229718,
          "strand": "-"
        },
        {
          "symbol": "CALML4",
          "ensemblId": "ENSG00000129007",
          "biotype": "protein_coding",
          "start": 68189788,
          "end": 68206087,
          "strand": "-",
          "slug": "calml4"
        },
        {
          "symbol": "FEM1B",
          "ensemblId": "ENSG00000169018",
          "biotype": "protein_coding",
          "start": 68277725,
          "end": 68296012,
          "strand": "+",
          "slug": "fem1b"
        },
        {
          "symbol": "ITGA11",
          "ensemblId": "ENSG00000137809",
          "biotype": "protein_coding",
          "start": 68296532,
          "end": 68432216,
          "strand": "-",
          "slug": "itga11"
        },
        {
          "symbol": "CORO2B",
          "ensemblId": "ENSG00000103647",
          "biotype": "protein_coding",
          "start": 68578555,
          "end": 68727806,
          "strand": "+",
          "slug": "coro2b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "neuronal-ceroid-lipofuscinosis",
        "name": "Neuronal Ceroid Lipofuscinosis",
        "diseases": [
          {
            "mondoId": "MONDO:0015674",
            "name": "Late Infantile Neuronal Ceroid Lipofuscinosis",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "Myriad Women's Health"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0016295",
            "name": "Neuronal Ceroid Lipofuscinosis",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.",
            "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": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/neuronal-ceroid-lipofuscinosis"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lysosomal Storage Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomal storage disease (other and unspecified types)",
            "genes": 59,
            "inheritance": null,
            "description": "Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.",
            "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/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-nervous-system-electrophysiology",
        "name": "Abnormal nervous system electrophysiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-electrophysiology"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/curvilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "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"
        ],
        "url": "https://dantelabs.com/traits/fingerprint-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "auditory-hallucination",
        "name": "Hallucinations of sound",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/auditory-hallucination"
      },
      {
        "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": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "motor-deterioration",
        "name": "Progressive degeneration of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-deterioration"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "rectilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material",
        "name": "Rectilinear intracellular accumulation of autofluorescent lipopigment storage material",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/rectilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "status-epilepticus-without-prominent-motor-symptoms",
        "name": "Status epilepticus without prominent motor symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/status-epilepticus-without-prominent-motor-symptoms"
      },
      {
        "slug": "vascular-granular-osmiophilic-material-deposition",
        "name": "Vascular granular osmiophilic material deposition",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vascular-granular-osmiophilic-material-deposition"
      },
      {
        "slug": "visual-hallucination",
        "name": "Visual hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/visual-hallucination"
      }
    ],
    "related": [
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 3,
        "url": "https://dantelabs.com/genes/cln5"
      },
      {
        "slug": "mfsd8",
        "symbol": "MFSD8",
        "name": "major facilitator superfamily domain containing 8",
        "shared": 3,
        "url": "https://dantelabs.com/genes/mfsd8"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 2,
        "url": "https://dantelabs.com/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 2,
        "url": "https://dantelabs.com/genes/cln3"
      },
      {
        "slug": "cln8",
        "symbol": "CLN8",
        "name": "CLN8 transmembrane ER and ERGIC protein",
        "shared": 2,
        "url": "https://dantelabs.com/genes/cln8"
      },
      {
        "slug": "ctsd",
        "symbol": "CTSD",
        "name": "cathepsin D",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ctsd"
      },
      {
        "slug": "ctsf",
        "symbol": "CTSF",
        "name": "cathepsin F",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ctsf"
      },
      {
        "slug": "dnajc5",
        "symbol": "DNAJC5",
        "name": "DnaJ heat shock protein family (Hsp40) member C5",
        "shared": 2,
        "url": "https://dantelabs.com/genes/dnajc5"
      },
      {
        "slug": "grn",
        "symbol": "GRN",
        "name": "granulin precursor",
        "shared": 2,
        "url": "https://dantelabs.com/genes/grn"
      },
      {
        "slug": "kctd7",
        "symbol": "KCTD7",
        "name": "potassium channel tetramerization domain containing 7",
        "shared": 2,
        "url": "https://dantelabs.com/genes/kctd7"
      },
      {
        "slug": "ppt1",
        "symbol": "PPT1",
        "name": "palmitoyl-protein thioesterase 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ppt1"
      },
      {
        "slug": "tpp1",
        "symbol": "TPP1",
        "name": "tripeptidyl peptidase 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/tpp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}