{
  "url": "https://dantelabs.com/no/genes/thg1l",
  "gene": {
    "slug": "thg1l",
    "symbol": "THG1L",
    "name": "tRNA-histidine guanylyltransferase 1 like",
    "hgnc": "HGNC:26053",
    "summary": null,
    "location": "5q33.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ICF45",
      "FLJ11601",
      "FLJ20546",
      "IHG-1",
      "hTHG1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000113272",
    "entrezId": 54974,
    "omim": [
      "618802"
    ],
    "uniprot": [
      "Q9NWX6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 157731420,
      "end": 157741449,
      "strand": "+",
      "ensemblTranscript": "ENST00000231198.12",
      "refseqTranscript": "NM_017872.5",
      "ensemblProtein": "ENSP00000231198.7",
      "refseqProtein": "NP_060342.2",
      "exons": [
        {
          "start": 157731420,
          "end": 157731631
        },
        {
          "start": 157732868,
          "end": 157733044
        },
        {
          "start": 157734576,
          "end": 157734745
        },
        {
          "start": 157735846,
          "end": 157735934
        },
        {
          "start": 157737887,
          "end": 157737994
        },
        {
          "start": 157739321,
          "end": 157741449
        }
      ],
      "cds": {
        "start": 157731441,
        "end": 157739482
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 157158205,
      "end": 157168456,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 157236435,
      "end": 158236434,
      "genes": [
        {
          "symbol": "ITK",
          "ensemblId": "ENSG00000113263",
          "biotype": "protein_coding",
          "start": 157142933,
          "end": 157255185,
          "strand": "+",
          "slug": "itk"
        },
        {
          "symbol": "CYFIP2",
          "ensemblId": "ENSG00000055163",
          "biotype": "protein_coding",
          "start": 157266079,
          "end": 157395595,
          "strand": "+",
          "slug": "cyfip2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285868",
          "biotype": "protein_coding",
          "start": 157341596,
          "end": 157460100,
          "strand": "-"
        },
        {
          "symbol": "FNDC9",
          "ensemblId": "ENSG00000172568",
          "biotype": "protein_coding",
          "start": 157341598,
          "end": 157345766,
          "strand": "-",
          "slug": "fndc9"
        },
        {
          "symbol": "ADAM19",
          "ensemblId": "ENSG00000135074",
          "biotype": "protein_coding",
          "start": 157395534,
          "end": 157575858,
          "strand": "-",
          "slug": "adam19"
        },
        {
          "symbol": "NIPAL4",
          "ensemblId": "ENSG00000172548",
          "biotype": "protein_coding",
          "start": 157460213,
          "end": 157474723,
          "strand": "+",
          "slug": "nipal4"
        },
        {
          "symbol": "SOX30",
          "ensemblId": "ENSG00000039600",
          "biotype": "protein_coding",
          "start": 157624798,
          "end": 157671480,
          "strand": "-",
          "slug": "sox30"
        },
        {
          "symbol": "C5orf52",
          "ensemblId": "ENSG00000187658",
          "biotype": "protein_coding",
          "start": 157671515,
          "end": 157680174,
          "strand": "+",
          "slug": "c5orf52"
        },
        {
          "symbol": "LSM11",
          "ensemblId": "ENSG00000155858",
          "biotype": "protein_coding",
          "start": 157743706,
          "end": 157760709,
          "strand": "+",
          "slug": "lsm11"
        },
        {
          "symbol": "CLINT1",
          "ensemblId": "ENSG00000113282",
          "biotype": "protein_coding",
          "start": 157783121,
          "end": 157859206,
          "strand": "-",
          "slug": "clint1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Autosomale recessive cerebellære ataksier (inkl. CANVAS og AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Autosomal recessiv cerebellær ataksi",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "En gruppe recessivt arvede ataksier forårsaket av biallelle varianter i gener som RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 og SYNE1.",
            "management": "Ataksi med vitamin E-mangel (TTPA) kan behandles med vitamin E-tilskudd; andre former håndteres med fysioterapi og symptomlindrende behandling, og slektninger kan tilbys bærertesting.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "gaze-evoked-horizontal-nystagmus",
        "name": "Gaze-evoked horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/gaze-evoked-horizontal-nystagmus"
      },
      {
        "slug": "impaired-smooth-pursuit",
        "name": "Impaired smooth pursuit",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/impaired-smooth-pursuit"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "poor-fine-motor-coordination",
        "name": "Poor fine motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/poor-fine-motor-coordination"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "truncal-titubation",
        "name": "Truncal titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/truncal-titubation"
      }
    ],
    "related": [
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ahi1"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ano10"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atg7"
      },
      {
        "slug": "atp8a2",
        "symbol": "ATP8A2",
        "name": "ATPase phospholipid transporting 8A2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp8a2"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ca8"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cep41"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/coa7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/coq8a"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "name": "centrosome and spindle pole associated protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cspp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}