{
  "url": "https://dantelabs.com/hu/genes/oas1",
  "gene": {
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    "symbol": "OAS1",
    "name": "2'-5'-oligoadenylate synthetase 1",
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    "location": "12q24.13",
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    "uniprot": [
      "P00973"
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      "refseqTranscript": "NM_016816.4",
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
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      "strand": "+"
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    "neighbourhood": {
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        {
          "symbol": "RPL6",
          "ensemblId": "ENSG00000089009",
          "biotype": "protein_coding",
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        {
          "symbol": "PTPN11",
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          "strand": "+",
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        {
          "symbol": "RPH3A",
          "ensemblId": "ENSG00000089169",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "OAS3",
          "ensemblId": "ENSG00000111331",
          "biotype": "protein_coding",
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          "end": 112976460,
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          "slug": "oas3"
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        {
          "symbol": "OAS2",
          "ensemblId": "ENSG00000111335",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "oas2"
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        {
          "symbol": "DTX1",
          "ensemblId": "ENSG00000135144",
          "biotype": "protein_coding",
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          "end": 113098028,
          "strand": "+",
          "slug": "dtx1"
        },
        {
          "symbol": "RASAL1",
          "ensemblId": "ENSG00000111344",
          "biotype": "protein_coding",
          "start": 113096515,
          "end": 113136262,
          "strand": "-",
          "slug": "rasal1"
        },
        {
          "symbol": "CFAP73",
          "ensemblId": "ENSG00000186710",
          "biotype": "protein_coding",
          "start": 113149709,
          "end": 113159526,
          "strand": "+",
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        {
          "symbol": "DDX54",
          "ensemblId": "ENSG00000123064",
          "biotype": "protein_coding",
          "start": 113157173,
          "end": 113185508,
          "strand": "-",
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        },
        {
          "symbol": "RITA1",
          "ensemblId": "ENSG00000139405",
          "biotype": "protein_coding",
          "start": 113185045,
          "end": 113193653,
          "strand": "+",
          "slug": "rita1"
        },
        {
          "symbol": "DRC10",
          "ensemblId": "ENSG00000166578",
          "biotype": "protein_coding",
          "start": 113192309,
          "end": 113221103,
          "strand": "-",
          "slug": "drc10"
        },
        {
          "symbol": "TPCN1",
          "ensemblId": "ENSG00000186815",
          "biotype": "protein_coding",
          "start": 113221050,
          "end": 113301325,
          "strand": "+",
          "slug": "tpcn1"
        },
        {
          "symbol": "SLC8B1",
          "ensemblId": "ENSG00000089060",
          "biotype": "protein_coding",
          "start": 113298759,
          "end": 113359502,
          "strand": "-",
          "slug": "slc8b1"
        },
        {
          "symbol": "PLBD2",
          "ensemblId": "ENSG00000151176",
          "biotype": "protein_coding",
          "start": 113358543,
          "end": 113391629,
          "strand": "+",
          "slug": "plbd2"
        },
        {
          "symbol": "SDS",
          "ensemblId": "ENSG00000135094",
          "biotype": "protein_coding",
          "start": 113392423,
          "end": 113426301,
          "strand": "-",
          "slug": "sds"
        },
        {
          "symbol": "SDSL",
          "ensemblId": "ENSG00000139410",
          "biotype": "protein_coding",
          "start": 113409798,
          "end": 113438395,
          "strand": "+",
          "slug": "sdsl"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Other Inborn Errors of Immunity",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunodeficiency Disease",
            "genes": 170,
            "inheritance": null,
            "description": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.",
            "management": "HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intraalveolar-phospholipid-accumulation",
        "name": "Intraalveolar phospholipid accumulation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intraalveolar-phospholipid-accumulation"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}