{
  "url": "https://dantelabs.com/nl/genes/arsg",
  "gene": {
    "slug": "arsg",
    "symbol": "ARSG",
    "name": "arylsulfatase G",
    "hgnc": "HGNC:24102",
    "summary": null,
    "location": "17q24.2",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA1001"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000141337",
    "entrezId": 22901,
    "omim": [
      "610008"
    ],
    "uniprot": [
      "Q96EG1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 68291495,
      "end": 68420814,
      "strand": "+",
      "ensemblTranscript": "ENST00000621439.5",
      "refseqTranscript": "NM_001267727.2",
      "ensemblProtein": "ENSP00000480910.1",
      "refseqProtein": "NP_001254656.1",
      "exons": [
        {
          "start": 68291495,
          "end": 68291568
        },
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        },
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        },
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      ],
      "cds": {
        "start": 68307494,
        "end": 68420463
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 66255323,
      "end": 66418872,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 67856155,
      "end": 68856154,
      "genes": [
        {
          "symbol": "BPTF",
          "ensemblId": "ENSG00000171634",
          "biotype": "protein_coding",
          "start": 67825488,
          "end": 67984378,
          "strand": "+",
          "slug": "bptf"
        },
        {
          "symbol": "C17orf58",
          "ensemblId": "ENSG00000186665",
          "biotype": "protein_coding",
          "start": 67991099,
          "end": 67996473,
          "strand": "-",
          "slug": "c17orf58"
        },
        {
          "symbol": "KPNA2",
          "ensemblId": "ENSG00000182481",
          "biotype": "protein_coding",
          "start": 68035517,
          "end": 68047364,
          "strand": "+",
          "slug": "kpna2"
        },
        {
          "symbol": "AMZ2",
          "ensemblId": "ENSG00000196704",
          "biotype": "protein_coding",
          "start": 68205431,
          "end": 68258828,
          "strand": "+",
          "slug": "amz2"
        },
        {
          "symbol": "SLC16A6",
          "ensemblId": "ENSG00000108932",
          "biotype": "protein_coding",
          "start": 68267026,
          "end": 68291267,
          "strand": "-",
          "slug": "slc16a6"
        },
        {
          "symbol": "WIPI1",
          "ensemblId": "ENSG00000070540",
          "biotype": "protein_coding",
          "start": 68420948,
          "end": 68457563,
          "strand": "-",
          "slug": "wipi1"
        },
        {
          "symbol": "PRKAR1A",
          "ensemblId": "ENSG00000108946",
          "biotype": "protein_coding",
          "start": 68511740,
          "end": 68551319,
          "strand": "+",
          "slug": "prkar1a"
        },
        {
          "symbol": "FAM20A",
          "ensemblId": "ENSG00000108950",
          "biotype": "protein_coding",
          "start": 68535113,
          "end": 68601407,
          "strand": "-",
          "slug": "fam20a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "usher-syndrome",
        "name": "Usher-syndroom",
        "diseases": [
          {
            "mondoId": "MONDO:0019501",
            "name": "Usher-syndroom",
            "genes": 11,
            "inheritance": "autosomal-recessive",
            "description": "Een groep recessieve aandoeningen (type 1 tot en met 4) die sensorineuraal gehoorverlies, progressieve retinitis pigmentosa en bij sommige typen evenwichtsproblemen veroorzaken, gekoppeld aan genen zoals USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 en ARSG.",
            "management": "Een vroege diagnose helpt bij beslissingen over het moment van een cochleair implantaat, oogcontroles en de geschiktheid voor deelname aan onderzoeken met retinale therapie, en is relevant voor draagscreening.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/usher-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cochlea-morphology",
        "name": "Abnormal cochlea morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cochlea-morphology"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-vestibular-function",
        "name": "Abnormal vestibular function",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-vestibular-function"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "scotoma",
        "name": "Blind spot",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scotoma"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "hyperautofluorescent-macular-lesion",
        "name": "Hyperautofluorescent macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperautofluorescent-macular-lesion"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "progressive-sensorineural-hearing-impairment",
        "name": "Progressive sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "ring-scotoma",
        "name": "Ring scotoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ring-scotoma"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "vestibular-hyporeflexia",
        "name": "Vestibular hyporeflexia",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vestibular-hyporeflexia"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "adgrv1",
        "symbol": "ADGRV1",
        "name": "adhesion G protein-coupled receptor V1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/adgrv1"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cdh23"
      },
      {
        "slug": "clrn1",
        "symbol": "CLRN1",
        "name": "clarin 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/clrn1"
      },
      {
        "slug": "hars1",
        "symbol": "HARS1",
        "name": "histidyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hars1"
      },
      {
        "slug": "myo7a",
        "symbol": "MYO7A",
        "name": "myosin VIIA",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/myo7a"
      },
      {
        "slug": "pcdh15",
        "symbol": "PCDH15",
        "name": "protocadherin related 15",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/pcdh15"
      },
      {
        "slug": "ush1c",
        "symbol": "USH1C",
        "name": "USH1 protein network component harmonin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ush1c"
      },
      {
        "slug": "ush1g",
        "symbol": "USH1G",
        "name": "USH1 protein network component sans",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ush1g"
      },
      {
        "slug": "ush2a",
        "symbol": "USH2A",
        "name": "usherin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ush2a"
      },
      {
        "slug": "whrn",
        "symbol": "WHRN",
        "name": "whirlin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/whrn"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}