{
  "url": "https://dantelabs.com/fi/genes/rnaseh2c",
  "gene": {
    "slug": "rnaseh2c",
    "symbol": "RNASEH2C",
    "name": "ribonuclease H2 subunit C",
    "hgnc": "HGNC:24116",
    "summary": null,
    "location": "11q13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "AYP1",
      "AGS3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000172922",
    "entrezId": 84153,
    "omim": [
      "610330"
    ],
    "uniprot": [
      "Q8TDP1"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 65717673,
      "end": 65720798,
      "strand": "-",
      "ensemblTranscript": "ENST00000308418.10",
      "refseqTranscript": "NM_032193.4",
      "ensemblProtein": "ENSP00000308193.5",
      "refseqProtein": "NP_115569.2",
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      ],
      "cds": {
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        "end": 65720758
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    },
    "grch37": {
      "build": "GRCh37",
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      "chrom": "11",
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      "end": 65488418,
      "strand": "-"
    },
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        {
          "symbol": "",
          "ensemblId": "ENSG00000285816",
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        {
          "symbol": "CDC42EP2",
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          "symbol": "SCYL1",
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          "slug": "scyl1"
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        {
          "symbol": "LTBP3",
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          "symbol": "FAM89B",
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        {
          "symbol": "EHBP1L1",
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        {
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        {
          "symbol": "MAP3K11",
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        {
          "symbol": "PCNX3",
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        {
          "symbol": "SIPA1",
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        {
          "symbol": "RELA",
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          "slug": "rela"
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        {
          "symbol": "KAT5",
          "ensemblId": "ENSG00000172977",
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          "slug": "kat5"
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        {
          "symbol": "AP5B1",
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        {
          "symbol": "OVOL1",
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        {
          "symbol": "CFL1",
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          "biotype": "protein_coding",
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        {
          "symbol": "SNX32",
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        {
          "symbol": "MUS81",
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          "biotype": "protein_coding",
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          "slug": "mus81"
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        {
          "symbol": "EFEMP2",
          "ensemblId": "ENSG00000172638",
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          "slug": "efemp2"
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        {
          "symbol": "CTSW",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "FIBP",
          "ensemblId": "ENSG00000172500",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fibp"
        },
        {
          "symbol": "CCDC85B",
          "ensemblId": "ENSG00000175602",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ccdc85b"
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        {
          "symbol": "FOSL1",
          "ensemblId": "ENSG00000175592",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fosl1"
        },
        {
          "symbol": "C11orf68",
          "ensemblId": "ENSG00000175573",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "c11orf68"
        },
        {
          "symbol": "DRAP1",
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          "slug": "drap1"
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        {
          "symbol": "TSGA10IP",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "tsga10ip"
        },
        {
          "symbol": "SART1",
          "ensemblId": "ENSG00000175467",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "sart1"
        },
        {
          "symbol": "EIF1AD",
          "ensemblId": "ENSG00000175376",
          "biotype": "protein_coding",
          "start": 65992009,
          "end": 66002472,
          "strand": "-",
          "slug": "eif1ad"
        },
        {
          "symbol": "BANF1",
          "ensemblId": "ENSG00000175334",
          "biotype": "protein_coding",
          "start": 66001832,
          "end": 66004170,
          "strand": "+",
          "slug": "banf1"
        },
        {
          "symbol": "CST6",
          "ensemblId": "ENSG00000175315",
          "biotype": "protein_coding",
          "start": 66011506,
          "end": 66013505,
          "strand": "+",
          "slug": "cst6"
        },
        {
          "symbol": "CATSPER1",
          "ensemblId": "ENSG00000175294",
          "biotype": "protein_coding",
          "start": 66016752,
          "end": 66026479,
          "strand": "-",
          "slug": "catsper1"
        },
        {
          "symbol": "GAL3ST3",
          "ensemblId": "ENSG00000175229",
          "biotype": "protein_coding",
          "start": 66040748,
          "end": 66049502,
          "strand": "-",
          "slug": "gal3st3"
        },
        {
          "symbol": "SF3B2",
          "ensemblId": "ENSG00000087365",
          "biotype": "protein_coding",
          "start": 66050729,
          "end": 66069308,
          "strand": "+",
          "slug": "sf3b2"
        },
        {
          "symbol": "PACS1",
          "ensemblId": "ENSG00000175115",
          "biotype": "protein_coding",
          "start": 66070017,
          "end": 66248638,
          "strand": "+",
          "slug": "pacs1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "aicardi-goutieres-syndrome",
        "name": "Aicardi-Goutières-oireyhtymä",
        "diseases": [
          {
            "mondoId": "MONDO:0700258",
            "name": "RNASEH2C-liittyvä tyypin 1 interferonopatia",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "RNASEH2C-variantit, jotka aiheuttavat Aicardi-Goutières-oireyhtymän.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018866",
            "name": "Aicardi-Goutières-oireyhtymä",
            "genes": 8,
            "inheritance": "autosomal-recessive",
            "description": "Aicardi-Goutières-oireyhtymä (AGS) on perinnöllinen, subakuutisti etenevä enkefalopatia, jolle ovat ominaisia tyvitumakkeiden kalkkeutuma, leukodystrofia ja aivo-selkäydinnesteen lymfosytoosi.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/aicardi-goutieres-syndrome"
      },
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Harvinaiset yksigeeniset autoinflammatoriset sairaudet",
        "diseases": [
          {
            "mondoId": "MONDO:0957018",
            "name": "PTPN2-geeniin liittyvä autoinflammaatio ja autoimmuniteetti",
            "genes": 22,
            "inheritance": "autosomal-dominant",
            "description": "Varhain alkava tulehduksellinen ja autoimmuunisairaus, johon kuuluvat mm. paksusuolitulehdus ja niveltulehdus. Aiheuttajana ovat PTPN2-geenin variantit.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/rare-monogenic-autoinflammatory-diseases"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Muut synnynnäiset immuunijärjestelmän häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Perinnöllinen immuunipuutos",
            "genes": 114,
            "inheritance": null,
            "description": "Immuunijärjestelmän perinnölliset häiriöt, joita aiheuttavat yksittäisten geenien muutokset ja jotka vaikuttavat siihen, miten elimistö torjuu infektioita tai säätelee tulehdusta.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/immunodeficiency-disease"
      },
      {
        "slug": "leukodystrophy",
        "name": "Muut perinnölliset leukodystrofiat",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofia (muut ja määrittelemättömät tyypit)",
            "genes": 80,
            "inheritance": null,
            "description": "Perinnölliset sairaudet, jotka vahingoittavat myeliinituppea eli aivojen ja selkäytimen valkeaa ainetta tai estävät sen normaalin muodostumisen. Eri tyypit periytyvät autosomaalisesti resessiivisesti, autosomaalisesti dominantisti tai X-kromosomaalisesti sen mukaan, mikä geeni on kyseessä.",
            "management": "Tiedossa oleva geneettinen syy voi lopettaa diagnoosin etsimisen, ohjata tukihoitoa ja seurantaa, osoittaa, onko olemassa tiettyä hoitoa, sekä mahdollistaa sukulaisten testauksen.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "abnormality-of-eye-movement",
        "name": "Abnormality of eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-eye-movement"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "arrhinencephaly",
        "name": "Arrhinencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arrhinencephaly"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "calcification-of-the-aorta",
        "name": "Calcification of the aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/calcification-of-the-aorta"
      },
      {
        "slug": "porencephalic-cyst",
        "name": "Cavity within brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/porencephalic-cyst"
      },
      {
        "slug": "chilblains",
        "name": "Chilblains",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chilblains"
      },
      {
        "slug": "chronic-csf-lymphocytosis",
        "name": "Chronic CSF lymphocytosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-csf-lymphocytosis"
      },
      {
        "slug": "chronic-lymphatic-leukemia",
        "name": "Chronic lymphatic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chronic-lymphatic-leukemia"
      },
      {
        "slug": "eyelid-coloboma",
        "name": "Cleft eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eyelid-coloboma"
      },
      {
        "slug": "csf-lymphocytic-pleiocytosis",
        "name": "CSF lymphocytic pleiocytosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/csf-lymphocytic-pleiocytosis"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "degeneration-of-the-striatum",
        "name": "Degeneration of the striatum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/degeneration-of-the-striatum"
      },
      {
        "slug": "delayed-myelination",
        "name": "Delayed myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-myelination"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "developmental-glaucoma",
        "name": "Developmental glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-glaucoma"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "enchondroma",
        "name": "Enchondroma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/enchondroma"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "extrapyramidal-muscular-rigidity",
        "name": "Extrapyramidal muscular rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/extrapyramidal-muscular-rigidity"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "increased-circulating-interferon-gamma-concentration",
        "name": "Increased circulating interferon-gamma concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-interferon-gamma-concentration"
      },
      {
        "slug": "increased-csf-interferon-alpha",
        "name": "Increased CSF interferon alpha",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-csf-interferon-alpha"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "panniculitis",
        "name": "Inflammation of fat tissue",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panniculitis"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "lipoatrophy",
        "name": "Loss of fat tissue in localized area",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lipoatrophy"
      },
      {
        "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": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "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": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "moyamoya-phenomenon",
        "name": "Moyamoya phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/moyamoya-phenomenon"
      },
      {
        "slug": "multifocal-cerebral-white-matter-abnormalities",
        "name": "Multifocal cerebral white matter abnormalities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multifocal-cerebral-white-matter-abnormalities"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "myositis",
        "name": "Muscle inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myositis"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "neonatal-alloimmune-thrombocytopenia",
        "name": "Neonatal alloimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-alloimmune-thrombocytopenia"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "acrocyanosis",
        "name": "Persistent blue color of hands or feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acrocyanosis"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "unexplained-fevers",
        "name": "Unexplained fevers",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unexplained-fevers"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 4,
        "url": "https://dantelabs.com/fi/genes/adar"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 4,
        "url": "https://dantelabs.com/fi/genes/ifih1"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "name": "ribonuclease H2 subunit A",
        "shared": 4,
        "url": "https://dantelabs.com/fi/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "name": "ribonuclease H2 subunit B",
        "shared": 4,
        "url": "https://dantelabs.com/fi/genes/rnaseh2b"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "name": "RNA, U7 small nuclear 1",
        "shared": 4,
        "url": "https://dantelabs.com/fi/genes/rnu7-1"
      },
      {
        "slug": "samhd1",
        "symbol": "SAMHD1",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "shared": 4,
        "url": "https://dantelabs.com/fi/genes/samhd1"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "name": "three prime repair exonuclease 1",
        "shared": 4,
        "url": "https://dantelabs.com/fi/genes/trex1"
      },
      {
        "slug": "skic2",
        "symbol": "SKIC2",
        "name": "SKI2 subunit of superkiller complex",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/skic2"
      },
      {
        "slug": "skic3",
        "symbol": "SKIC3",
        "name": "SKI3 subunit of superkiller complex",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/skic3"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/abcd1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}