{
  "url": "https://dantelabs.com/no/genes/c8a",
  "gene": {
    "slug": "c8a",
    "symbol": "C8A",
    "name": "complement C8 alpha chain",
    "hgnc": "HGNC:1352",
    "summary": null,
    "location": "1p32.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000157131",
    "entrezId": 731,
    "omim": [
      "120950"
    ],
    "uniprot": [
      "P07357"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 56854797,
      "end": 56918223,
      "strand": "+",
      "ensemblTranscript": "ENST00000361249.4",
      "refseqTranscript": "NM_000562.3",
      "ensemblProtein": "ENSP00000354458.3",
      "refseqProtein": "NP_000553.1",
      "exons": [
        {
          "start": 56854797,
          "end": 56854978
        },
        {
          "start": 56867609,
          "end": 56867702
        },
        {
          "start": 56874949,
          "end": 56875093
        },
        {
          "start": 56876062,
          "end": 56876209
        },
        {
          "start": 56881445,
          "end": 56881634
        },
        {
          "start": 56883481,
          "end": 56883681
        },
        {
          "start": 56885927,
          "end": 56886167
        },
        {
          "start": 56906667,
          "end": 56906792
        },
        {
          "start": 56907956,
          "end": 56908113
        },
        {
          "start": 56912403,
          "end": 56912625
        },
        {
          "start": 56917565,
          "end": 56918223
        }
      ],
      "cds": {
        "start": 56854902,
        "end": 56917716
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 57320479,
      "end": 57383894,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 56386510,
      "end": 57386509,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000284686",
          "biotype": "protein_coding",
          "start": 56173433,
          "end": 56524495,
          "strand": "-"
        },
        {
          "symbol": "PLPP3",
          "ensemblId": "ENSG00000162407",
          "biotype": "protein_coding",
          "start": 56494751,
          "end": 56645301,
          "strand": "-",
          "slug": "plpp3"
        },
        {
          "symbol": "PRKAA2",
          "ensemblId": "ENSG00000162409",
          "biotype": "protein_coding",
          "start": 56645206,
          "end": 56715335,
          "strand": "+",
          "slug": "prkaa2"
        },
        {
          "symbol": "FYB2",
          "ensemblId": "ENSG00000187889",
          "biotype": "protein_coding",
          "start": 56718789,
          "end": 56819735,
          "strand": "-",
          "slug": "fyb2"
        },
        {
          "symbol": "C8B",
          "ensemblId": "ENSG00000021852",
          "biotype": "protein_coding",
          "start": 56928282,
          "end": 56974383,
          "strand": "-",
          "slug": "c8b"
        },
        {
          "symbol": "DAB1",
          "ensemblId": "ENSG00000173406",
          "biotype": "protein_coding",
          "start": 56994778,
          "end": 58546734,
          "strand": "-",
          "slug": "dab1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "complement-and-properdin-deficiencies",
        "name": "Arvelige mangler i komplementsystemet og properdin",
        "diseases": [
          {
            "mondoId": "MONDO:0015700",
            "name": "Mangel på senere komplementkomponenter (C5 til C9)",
            "genes": 6,
            "inheritance": "autosomal-recessive",
            "description": "Mangler i de terminale komplementkomponentene som i stor grad øker risikoen for gjentatte Neisseria-infeksjoner, særlig meningokokksykdom.",
            "management": "Meningokokkvaksinasjon anbefales, og i enkelte tilfeller også antibiotikaprofylakse.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/complement-and-properdin-deficiencies"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Andre medfødte immunsviktsykdommer",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Medfødt immunsviktsykdom",
            "genes": 114,
            "inheritance": null,
            "description": "Arvelige sykdommer i immunsystemet forårsaket av endringer i enkeltgener, som påvirker hvordan kroppen bekjemper infeksjoner eller regulerer betennelse.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunsviktsykdom",
            "genes": 170,
            "inheritance": null,
            "description": "Sykdom der det finnes en mangel eller defekt i immunforsvarsmekanismene, enten cellulære eller humorale.",
            "management": "HSCT ved SCID og alvorlige PID; immunglobulinerstatning (IVIG/SCIG) ved antistoffmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4- og LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-circulating-complement-c8-concentration",
        "name": "Decreased circulating complement C8 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-complement-c8-concentration"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "systemic-lupus-erythematosus",
        "name": "Systemic lupus erythematosus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/systemic-lupus-erythematosus"
      }
    ],
    "related": [
      {
        "slug": "c5",
        "symbol": "C5",
        "name": "complement C5",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/c5"
      },
      {
        "slug": "c6",
        "symbol": "C6",
        "name": "complement C6",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/c6"
      },
      {
        "slug": "c7",
        "symbol": "C7",
        "name": "complement C7",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/c7"
      },
      {
        "slug": "c8b",
        "symbol": "C8B",
        "name": "complement C8 beta chain",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/c8b"
      },
      {
        "slug": "c9",
        "symbol": "C9",
        "name": "complement C9",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/c9"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/c1qa"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}