{
  "url": "https://dantelabs.com/hu/genes/clcn6",
  "gene": {
    "slug": "clcn6",
    "symbol": "CLCN6",
    "name": "Cl-/H+ antiporter 6",
    "hgnc": "HGNC:2024",
    "summary": null,
    "location": "1p36.22",
    "locusType": "gene with protein product",
    "aliases": [
      "CLC-6",
      "KIAA0046",
      "ClC-6"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000011021",
    "entrezId": 1185,
    "omim": [
      "602726"
    ],
    "uniprot": [
      "P51797"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 11806191,
      "end": 11843130,
      "strand": "+",
      "ensemblTranscript": "ENST00000346436.11",
      "refseqTranscript": "NM_001286.5",
      "ensemblProtein": "ENSP00000234488.9",
      "refseqProtein": "NP_001277.2",
      "exons": [
        {
          "start": 11806191,
          "end": 11806349
        },
        {
          "start": 11807131,
          "end": 11807190
        },
        {
          "start": 11815846,
          "end": 11815911
        },
        {
          "start": 11816615,
          "end": 11816680
        },
        {
          "start": 11819488,
          "end": 11819554
        },
        {
          "start": 11822695,
          "end": 11822801
        },
        {
          "start": 11823707,
          "end": 11823833
        },
        {
          "start": 11824486,
          "end": 11824553
        },
        {
          "start": 11826156,
          "end": 11826214
        },
        {
          "start": 11827089,
          "end": 11827221
        },
        {
          "start": 11828106,
          "end": 11828219
        },
        {
          "start": 11828458,
          "end": 11828624
        },
        {
          "start": 11829196,
          "end": 11829322
        },
        {
          "start": 11833515,
          "end": 11833638
        },
        {
          "start": 11833877,
          "end": 11834030
        },
        {
          "start": 11834236,
          "end": 11834395
        },
        {
          "start": 11834484,
          "end": 11834590
        },
        {
          "start": 11835967,
          "end": 11836153
        },
        {
          "start": 11836999,
          "end": 11837156
        },
        {
          "start": 11837343,
          "end": 11837499
        },
        {
          "start": 11838335,
          "end": 11838442
        },
        {
          "start": 11838535,
          "end": 11838660
        },
        {
          "start": 11840143,
          "end": 11843130
        }
      ],
      "cds": {
        "start": 11806263,
        "end": 11840223
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 11866207,
      "end": 11903201,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 11324661,
      "end": 12324660,
      "genes": [
        {
          "symbol": "DISP3",
          "ensemblId": "ENSG00000204624",
          "biotype": "protein_coding",
          "start": 11478905,
          "end": 11537583,
          "strand": "+",
          "slug": "disp3"
        },
        {
          "symbol": "FBXO2",
          "ensemblId": "ENSG00000116661",
          "biotype": "protein_coding",
          "start": 11637018,
          "end": 11655785,
          "strand": "-",
          "slug": "fbxo2"
        },
        {
          "symbol": "FBXO44",
          "ensemblId": "ENSG00000132879",
          "biotype": "protein_coding",
          "start": 11650618,
          "end": 11663327,
          "strand": "+",
          "slug": "fbxo44"
        },
        {
          "symbol": "MAD2L2",
          "ensemblId": "ENSG00000116670",
          "biotype": "protein_coding",
          "start": 11657230,
          "end": 11692605,
          "strand": "-",
          "slug": "mad2l2"
        },
        {
          "symbol": "FBXO6",
          "ensemblId": "ENSG00000116663",
          "biotype": "protein_coding",
          "start": 11664141,
          "end": 11674354,
          "strand": "+",
          "slug": "fbxo6"
        },
        {
          "symbol": "DRAXIN",
          "ensemblId": "ENSG00000162490",
          "biotype": "protein_coding",
          "start": 11690958,
          "end": 11725857,
          "strand": "+",
          "slug": "draxin"
        },
        {
          "symbol": "AGTRAP",
          "ensemblId": "ENSG00000177674",
          "biotype": "protein_coding",
          "start": 11736070,
          "end": 11754802,
          "strand": "+",
          "slug": "agtrap"
        },
        {
          "symbol": "C1orf167",
          "ensemblId": "ENSG00000215910",
          "biotype": "protein_coding",
          "start": 11761787,
          "end": 11789585,
          "strand": "+",
          "slug": "c1orf167"
        },
        {
          "symbol": "MTHFR",
          "ensemblId": "ENSG00000177000",
          "biotype": "protein_coding",
          "start": 11785723,
          "end": 11806455,
          "strand": "-",
          "slug": "mthfr"
        },
        {
          "symbol": "NPPA",
          "ensemblId": "ENSG00000175206",
          "biotype": "protein_coding",
          "start": 11845701,
          "end": 11848345,
          "strand": "-",
          "slug": "nppa"
        },
        {
          "symbol": "NPPB",
          "ensemblId": "ENSG00000120937",
          "biotype": "protein_coding",
          "start": 11857454,
          "end": 11859648,
          "strand": "-",
          "slug": "nppb"
        },
        {
          "symbol": "KIAA2013",
          "ensemblId": "ENSG00000116685",
          "biotype": "protein_coding",
          "start": 11919590,
          "end": 11926428,
          "strand": "-",
          "slug": "kiaa2013"
        },
        {
          "symbol": "PLOD1",
          "ensemblId": "ENSG00000083444",
          "biotype": "protein_coding",
          "start": 11934205,
          "end": 11975542,
          "strand": "+",
          "slug": "plod1"
        },
        {
          "symbol": "MFN2",
          "ensemblId": "ENSG00000116688",
          "biotype": "protein_coding",
          "start": 11980181,
          "end": 12015211,
          "strand": "+",
          "slug": "mfn2"
        },
        {
          "symbol": "MIIP",
          "ensemblId": "ENSG00000116691",
          "biotype": "protein_coding",
          "start": 12019466,
          "end": 12032048,
          "strand": "+",
          "slug": "miip"
        },
        {
          "symbol": "TNFRSF8",
          "ensemblId": "ENSG00000120949",
          "biotype": "protein_coding",
          "start": 12063079,
          "end": 12144221,
          "strand": "+",
          "slug": "tnfrsf8"
        },
        {
          "symbol": "TNFRSF1B",
          "ensemblId": "ENSG00000028137",
          "biotype": "protein_coding",
          "start": 12166970,
          "end": 12209228,
          "strand": "+",
          "slug": "tnfrsf1b"
        },
        {
          "symbol": "VPS13D",
          "ensemblId": "ENSG00000048707",
          "biotype": "protein_coding",
          "start": 12230007,
          "end": 12512047,
          "strand": "+",
          "slug": "vps13d"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "neuronal-ceroid-lipofuscinosis",
        "name": "Neuronal Ceroid Lipofuscinosis",
        "diseases": [
          {
            "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": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/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": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-temperature-regulation",
        "name": "Abnormality of temperature regulation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-temperature-regulation"
      },
      {
        "slug": "alternating-esotropia",
        "name": "Alternating cross eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alternating-esotropia"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "gastrostomy-tube-feeding-in-infancy",
        "name": "Gastrostomy tube feeding in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "neurogenic-bladder",
        "name": "Lack of bladder control due to nervous system injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurogenic-bladder"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "trichorrhexis-nodosa",
        "name": "Trichorrhexis nodosa",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/trichorrhexis-nodosa"
      },
      {
        "slug": "type-2-muscle-fiber-predominance",
        "name": "Type 2 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-2-muscle-fiber-predominance"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cln3"
      },
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cln6"
      },
      {
        "slug": "cln8",
        "symbol": "CLN8",
        "name": "CLN8 transmembrane ER and ERGIC protein",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cln8"
      },
      {
        "slug": "ctsd",
        "symbol": "CTSD",
        "name": "cathepsin D",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ctsd"
      },
      {
        "slug": "ctsf",
        "symbol": "CTSF",
        "name": "cathepsin F",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ctsf"
      },
      {
        "slug": "dnajc5",
        "symbol": "DNAJC5",
        "name": "DnaJ heat shock protein family (Hsp40) member C5",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dnajc5"
      },
      {
        "slug": "grn",
        "symbol": "GRN",
        "name": "granulin precursor",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/grn"
      },
      {
        "slug": "kctd7",
        "symbol": "KCTD7",
        "name": "potassium channel tetramerization domain containing 7",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/kctd7"
      },
      {
        "slug": "mfsd8",
        "symbol": "MFSD8",
        "name": "major facilitator superfamily domain containing 8",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/mfsd8"
      },
      {
        "slug": "ppt1",
        "symbol": "PPT1",
        "name": "palmitoyl-protein thioesterase 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ppt1"
      },
      {
        "slug": "tpp1",
        "symbol": "TPP1",
        "name": "tripeptidyl peptidase 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/tpp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}