{
  "url": "https://dantelabs.com/cs/genes/cfb",
  "gene": {
    "slug": "cfb",
    "symbol": "CFB",
    "name": "complement factor B",
    "hgnc": "HGNC:1037",
    "summary": null,
    "location": "6p21.33",
    "locusType": "gene with protein product",
    "aliases": [
      "H2-Bf"
    ],
    "previousSymbols": [
      "BFD",
      "BF"
    ],
    "ensemblId": "ENSG00000243649",
    "entrezId": 629,
    "omim": [
      "138470"
    ],
    "uniprot": [
      "P00751"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 31946095,
      "end": 31952084,
      "strand": "+",
      "ensemblTranscript": "ENST00000425368.7",
      "refseqTranscript": "NM_001710.6",
      "ensemblProtein": "ENSP00000416561.2",
      "refseqProtein": "NP_001701.2",
      "exons": [
        {
          "start": 31946095,
          "end": 31946285
        },
        {
          "start": 31946373,
          "end": 31946606
        },
        {
          "start": 31947007,
          "end": 31947192
        },
        {
          "start": 31947348,
          "end": 31947521
        },
        {
          "start": 31947742,
          "end": 31947843
        },
        {
          "start": 31947945,
          "end": 31948081
        },
        {
          "start": 31948374,
          "end": 31948512
        },
        {
          "start": 31948830,
          "end": 31948961
        },
        {
          "start": 31949243,
          "end": 31949344
        },
        {
          "start": 31949420,
          "end": 31949557
        },
        {
          "start": 31950050,
          "end": 31950147
        },
        {
          "start": 31950286,
          "end": 31950403
        },
        {
          "start": 31950619,
          "end": 31950772
        },
        {
          "start": 31950868,
          "end": 31950944
        },
        {
          "start": 31951144,
          "end": 31951244
        },
        {
          "start": 31951341,
          "end": 31951473
        },
        {
          "start": 31951555,
          "end": 31951604
        },
        {
          "start": 31951875,
          "end": 31952084
        }
      ],
      "cds": {
        "start": 31946222,
        "end": 31952030
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 31895475,
      "end": 31919861,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31449090,
      "end": 32449089,
      "genes": [
        {
          "symbol": "MICB",
          "ensemblId": "ENSG00000204516",
          "biotype": "protein_coding",
          "start": 31494881,
          "end": 31511124,
          "strand": "+",
          "slug": "micb"
        },
        {
          "symbol": "MCCD1",
          "ensemblId": "ENSG00000204511",
          "biotype": "protein_coding",
          "start": 31528962,
          "end": 31530232,
          "strand": "+",
          "slug": "mccd1"
        },
        {
          "symbol": "DDX39B",
          "ensemblId": "ENSG00000198563",
          "biotype": "protein_coding",
          "start": 31530217,
          "end": 31542451,
          "strand": "-",
          "slug": "ddx39b"
        },
        {
          "symbol": "ATP6V1G2-DDX39B",
          "ensemblId": "ENSG00000254870",
          "biotype": "protein_coding",
          "start": 31530219,
          "end": 31546608,
          "strand": "-",
          "slug": "atp6v1g2-ddx39b"
        },
        {
          "symbol": "ATP6V1G2",
          "ensemblId": "ENSG00000213760",
          "biotype": "protein_coding",
          "start": 31544444,
          "end": 31548427,
          "strand": "-",
          "slug": "atp6v1g2"
        },
        {
          "symbol": "NFKBIL1",
          "ensemblId": "ENSG00000204498",
          "biotype": "protein_coding",
          "start": 31546870,
          "end": 31558829,
          "strand": "+",
          "slug": "nfkbil1"
        },
        {
          "symbol": "LTA",
          "ensemblId": "ENSG00000226979",
          "biotype": "protein_coding",
          "start": 31572054,
          "end": 31574324,
          "strand": "+",
          "slug": "lta"
        },
        {
          "symbol": "TNF",
          "ensemblId": "ENSG00000232810",
          "biotype": "protein_coding",
          "start": 31575558,
          "end": 31578336,
          "strand": "+",
          "slug": "tnf"
        },
        {
          "symbol": "LTB",
          "ensemblId": "ENSG00000227507",
          "biotype": "protein_coding",
          "start": 31580525,
          "end": 31582522,
          "strand": "-",
          "slug": "ltb"
        },
        {
          "symbol": "LST1",
          "ensemblId": "ENSG00000204482",
          "biotype": "protein_coding",
          "start": 31581065,
          "end": 31588911,
          "strand": "+",
          "slug": "lst1"
        },
        {
          "symbol": "NCR3",
          "ensemblId": "ENSG00000204475",
          "biotype": "protein_coding",
          "start": 31588895,
          "end": 31593217,
          "strand": "-",
          "slug": "ncr3"
        },
        {
          "symbol": "AIF1",
          "ensemblId": "ENSG00000204472",
          "biotype": "protein_coding",
          "start": 31615214,
          "end": 31617025,
          "strand": "+",
          "slug": "aif1"
        },
        {
          "symbol": "PRRC2A",
          "ensemblId": "ENSG00000204469",
          "biotype": "protein_coding",
          "start": 31620675,
          "end": 31637771,
          "strand": "+",
          "slug": "prrc2a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000291302",
          "biotype": "protein_coding",
          "start": 31622774,
          "end": 31622860,
          "strand": "+"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289282",
          "biotype": "protein_coding",
          "start": 31623874,
          "end": 31625499,
          "strand": "+"
        },
        {
          "symbol": "BAG6",
          "ensemblId": "ENSG00000204463",
          "biotype": "protein_coding",
          "start": 31638543,
          "end": 31652747,
          "strand": "-",
          "slug": "bag6"
        },
        {
          "symbol": "APOM",
          "ensemblId": "ENSG00000204444",
          "biotype": "protein_coding",
          "start": 31652416,
          "end": 31658214,
          "strand": "+",
          "slug": "apom"
        },
        {
          "symbol": "C6orf47",
          "ensemblId": "ENSG00000204439",
          "biotype": "protein_coding",
          "start": 31658298,
          "end": 31660778,
          "strand": "-",
          "slug": "c6orf47"
        },
        {
          "symbol": "GPANK1",
          "ensemblId": "ENSG00000204438",
          "biotype": "protein_coding",
          "start": 31661228,
          "end": 31666283,
          "strand": "-",
          "slug": "gpank1"
        },
        {
          "symbol": "CSNK2B",
          "ensemblId": "ENSG00000204435",
          "biotype": "protein_coding",
          "start": 31665227,
          "end": 31670343,
          "strand": "+",
          "slug": "csnk2b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000263020",
          "biotype": "protein_coding",
          "start": 31666102,
          "end": 31673546,
          "strand": "+"
        },
        {
          "symbol": "LY6G5B",
          "ensemblId": "ENSG00000240053",
          "biotype": "protein_coding",
          "start": 31669976,
          "end": 31673776,
          "strand": "+",
          "slug": "ly6g5b"
        },
        {
          "symbol": "LY6G5C",
          "ensemblId": "ENSG00000204428",
          "biotype": "protein_coding",
          "start": 31676684,
          "end": 31684040,
          "strand": "-",
          "slug": "ly6g5c"
        },
        {
          "symbol": "ABHD16A",
          "ensemblId": "ENSG00000204427",
          "biotype": "protein_coding",
          "start": 31686954,
          "end": 31703391,
          "strand": "-",
          "slug": "abhd16a"
        },
        {
          "symbol": "LY6G6F",
          "ensemblId": "ENSG00000204424",
          "biotype": "protein_coding",
          "start": 31706863,
          "end": 31710801,
          "strand": "+",
          "slug": "ly6g6f"
        },
        {
          "symbol": "LY6G6F-LY6G6D",
          "ensemblId": "ENSG00000250641",
          "biotype": "protein_coding",
          "start": 31706904,
          "end": 31717918,
          "strand": "+",
          "slug": "ly6g6f-ly6g6d"
        },
        {
          "symbol": "LY6G6D",
          "ensemblId": "ENSG00000244355",
          "biotype": "protein_coding",
          "start": 31715285,
          "end": 31717919,
          "strand": "+",
          "slug": "ly6g6d"
        },
        {
          "symbol": "MPIG6B",
          "ensemblId": "ENSG00000204420",
          "biotype": "protein_coding",
          "start": 31718594,
          "end": 31726714,
          "strand": "+",
          "slug": "mpig6b"
        },
        {
          "symbol": "LY6G6C",
          "ensemblId": "ENSG00000204421",
          "biotype": "protein_coding",
          "start": 31718648,
          "end": 31721746,
          "strand": "-",
          "slug": "ly6g6c"
        },
        {
          "symbol": "DDAH2",
          "ensemblId": "ENSG00000213722",
          "biotype": "protein_coding",
          "start": 31726586,
          "end": 31730617,
          "strand": "-",
          "slug": "ddah2"
        },
        {
          "symbol": "CLIC1",
          "ensemblId": "ENSG00000213719",
          "biotype": "protein_coding",
          "start": 31730579,
          "end": 31740558,
          "strand": "-",
          "slug": "clic1"
        },
        {
          "symbol": "MSH5",
          "ensemblId": "ENSG00000204410",
          "biotype": "protein_coding",
          "start": 31739677,
          "end": 31762678,
          "strand": "+",
          "slug": "msh5"
        },
        {
          "symbol": "MSH5-SAPCD1",
          "ensemblId": "ENSG00000255152",
          "biotype": "protein_coding",
          "start": 31740020,
          "end": 31764851,
          "strand": "+",
          "slug": "msh5-sapcd1"
        },
        {
          "symbol": "SAPCD1",
          "ensemblId": "ENSG00000228727",
          "biotype": "protein_coding",
          "start": 31762656,
          "end": 31764851,
          "strand": "+",
          "slug": "sapcd1"
        },
        {
          "symbol": "VWA7",
          "ensemblId": "ENSG00000204396",
          "biotype": "protein_coding",
          "start": 31765590,
          "end": 31777328,
          "strand": "-",
          "slug": "vwa7"
        },
        {
          "symbol": "VARS1",
          "ensemblId": "ENSG00000204394",
          "biotype": "protein_coding",
          "start": 31777518,
          "end": 31795975,
          "strand": "-",
          "slug": "vars1"
        },
        {
          "symbol": "LSM2",
          "ensemblId": "ENSG00000204392",
          "biotype": "protein_coding",
          "start": 31797019,
          "end": 31806992,
          "strand": "-",
          "slug": "lsm2"
        },
        {
          "symbol": "HSPA1L",
          "ensemblId": "ENSG00000204390",
          "biotype": "protein_coding",
          "start": 31809619,
          "end": 31815788,
          "strand": "-",
          "slug": "hspa1l"
        },
        {
          "symbol": "HSPA1A",
          "ensemblId": "ENSG00000204389",
          "biotype": "protein_coding",
          "start": 31815543,
          "end": 31817994,
          "strand": "+",
          "slug": "hspa1a"
        },
        {
          "symbol": "HSPA1B",
          "ensemblId": "ENSG00000204388",
          "biotype": "protein_coding",
          "start": 31827738,
          "end": 31830254,
          "strand": "+",
          "slug": "hspa1b"
        },
        {
          "symbol": "NEU1",
          "ensemblId": "ENSG00000204386",
          "biotype": "protein_coding",
          "start": 31857063,
          "end": 31862905,
          "strand": "-",
          "slug": "neu1"
        },
        {
          "symbol": "SLC44A4",
          "ensemblId": "ENSG00000204385",
          "biotype": "protein_coding",
          "start": 31863173,
          "end": 31879198,
          "strand": "-",
          "slug": "slc44a4"
        },
        {
          "symbol": "EHMT2",
          "ensemblId": "ENSG00000204371",
          "biotype": "protein_coding",
          "start": 31879758,
          "end": 31897723,
          "strand": "-",
          "slug": "ehmt2"
        },
        {
          "symbol": "C2",
          "ensemblId": "ENSG00000166278",
          "biotype": "protein_coding",
          "start": 31897785,
          "end": 31945677,
          "strand": "+",
          "slug": "c2"
        },
        {
          "symbol": "ZBTB12",
          "ensemblId": "ENSG00000204366",
          "biotype": "protein_coding",
          "start": 31899065,
          "end": 31902103,
          "strand": "-",
          "slug": "zbtb12"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000244255",
          "biotype": "protein_coding",
          "start": 31927698,
          "end": 31952048,
          "strand": "+"
        },
        {
          "symbol": "NELFE",
          "ensemblId": "ENSG00000204356",
          "biotype": "protein_coding",
          "start": 31952087,
          "end": 31959079,
          "strand": "-",
          "slug": "nelfe"
        },
        {
          "symbol": "SKIC2",
          "ensemblId": "ENSG00000204351",
          "biotype": "protein_coding",
          "start": 31959025,
          "end": 31969852,
          "strand": "+",
          "slug": "skic2"
        },
        {
          "symbol": "DXO",
          "ensemblId": "ENSG00000204348",
          "biotype": "protein_coding",
          "start": 31969810,
          "end": 31972517,
          "strand": "-",
          "slug": "dxo"
        },
        {
          "symbol": "WHR1",
          "ensemblId": "ENSG00000204344",
          "biotype": "protein_coding",
          "start": 31971091,
          "end": 31982821,
          "strand": "+",
          "slug": "whr1"
        },
        {
          "symbol": "C4A",
          "ensemblId": "ENSG00000244731",
          "biotype": "protein_coding",
          "start": 31981991,
          "end": 32005247,
          "strand": "+",
          "slug": "c4a"
        },
        {
          "symbol": "C4B",
          "ensemblId": "ENSG00000224389",
          "biotype": "protein_coding",
          "start": 32014725,
          "end": 32035975,
          "strand": "+",
          "slug": "c4b"
        },
        {
          "symbol": "CYP21A2",
          "ensemblId": "ENSG00000231852",
          "biotype": "protein_coding",
          "start": 32038297,
          "end": 32042321,
          "strand": "+",
          "slug": "cyp21a2"
        },
        {
          "symbol": "TNXB",
          "ensemblId": "ENSG00000168477",
          "biotype": "protein_coding",
          "start": 32041153,
          "end": 32115334,
          "strand": "-",
          "slug": "tnxb"
        },
        {
          "symbol": "ATF6B",
          "ensemblId": "ENSG00000213676",
          "biotype": "protein_coding",
          "start": 32115264,
          "end": 32128255,
          "strand": "-",
          "slug": "atf6b"
        },
        {
          "symbol": "FKBPL",
          "ensemblId": "ENSG00000204315",
          "biotype": "protein_coding",
          "start": 32128697,
          "end": 32131070,
          "strand": "-",
          "slug": "fkbpl"
        },
        {
          "symbol": "PPT2",
          "ensemblId": "ENSG00000221988",
          "biotype": "protein_coding",
          "start": 32146580,
          "end": 32163679,
          "strand": "+",
          "slug": "ppt2"
        },
        {
          "symbol": "PRRT1",
          "ensemblId": "ENSG00000204314",
          "biotype": "protein_coding",
          "start": 32147292,
          "end": 32153083,
          "strand": "-",
          "slug": "prrt1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285085",
          "biotype": "protein_coding",
          "start": 32150495,
          "end": 32154373,
          "strand": "-"
        },
        {
          "symbol": "PPT2-EGFL8",
          "ensemblId": "ENSG00000258388",
          "biotype": "protein_coding",
          "start": 32153845,
          "end": 32171978,
          "strand": "+",
          "slug": "ppt2-egfl8"
        },
        {
          "symbol": "EGFL8",
          "ensemblId": "ENSG00000241404",
          "biotype": "protein_coding",
          "start": 32163918,
          "end": 32171980,
          "strand": "+",
          "slug": "egfl8"
        },
        {
          "symbol": "AGPAT1",
          "ensemblId": "ENSG00000204310",
          "biotype": "protein_coding",
          "start": 32167118,
          "end": 32178112,
          "strand": "-",
          "slug": "agpat1"
        },
        {
          "symbol": "RNF5",
          "ensemblId": "ENSG00000204308",
          "biotype": "protein_coding",
          "start": 32178391,
          "end": 32184769,
          "strand": "+",
          "slug": "rnf5"
        },
        {
          "symbol": "AGER",
          "ensemblId": "ENSG00000204305",
          "biotype": "protein_coding",
          "start": 32180963,
          "end": 32184365,
          "strand": "-",
          "slug": "ager"
        },
        {
          "symbol": "PBX2",
          "ensemblId": "ENSG00000204304",
          "biotype": "protein_coding",
          "start": 32184733,
          "end": 32190278,
          "strand": "-",
          "slug": "pbx2"
        },
        {
          "symbol": "GPSM3",
          "ensemblId": "ENSG00000213654",
          "biotype": "protein_coding",
          "start": 32190766,
          "end": 32195523,
          "strand": "-",
          "slug": "gpsm3"
        },
        {
          "symbol": "NOTCH4",
          "ensemblId": "ENSG00000204301",
          "biotype": "protein_coding",
          "start": 32194843,
          "end": 32224111,
          "strand": "-",
          "slug": "notch4"
        },
        {
          "symbol": "TSBP1",
          "ensemblId": "ENSG00000204296",
          "biotype": "protein_coding",
          "start": 32288526,
          "end": 32371907,
          "strand": "-",
          "slug": "tsbp1"
        },
        {
          "symbol": "BTNL2",
          "ensemblId": "ENSG00000204290",
          "biotype": "protein_coding",
          "start": 32391481,
          "end": 32407181,
          "strand": "-",
          "slug": "btnl2"
        },
        {
          "symbol": "HLA-DRA",
          "ensemblId": "ENSG00000204287",
          "biotype": "protein_coding",
          "start": 32439870,
          "end": 32445181,
          "strand": "+",
          "slug": "hla-dra"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hemolytic-uremic-syndrome-interstitial-nephritis",
        "name": "Hemolytic Uremic Syndrome, Interstitial Nephritis",
        "diseases": [
          {
            "mondoId": "MONDO:0013042",
            "name": "Atypical Hemolytic-Uremic Syndrome With B Factor Anomaly",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0035290",
            "name": "Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0016244",
            "name": "Atypical Hemolytic-Uremic Syndrome",
            "genes": 7,
            "inheritance": "autosomal-dominant",
            "description": "A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0001549",
            "name": "Hemolytic-Uremic Syndrome",
            "genes": 7,
            "inheritance": null,
            "description": "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0957097",
            "name": "Hereditary Hemolytic Uremic Syndrome",
            "genes": 7,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/hemolytic-uremic-syndrome-interstitial-nephritis"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Other Inborn Errors of Immunity",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Inborn error of immunity",
            "genes": 114,
            "inheritance": null,
            "description": "Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "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)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anuria",
        "name": "Absent urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/anuria"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "decreased-circulating-complement-factor-b-concentration",
        "name": "Decreased circulating complement factor B concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-complement-factor-b-concentration"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "hemolytic-uremic-syndrome",
        "name": "Hemolytic-uremic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemolytic-uremic-syndrome"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "increased-blood-urea-nitrogen",
        "name": "Increased blood urea nitrogen",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-blood-urea-nitrogen"
      },
      {
        "slug": "recurrent-neisseria-meningitidis-infection",
        "name": "Increased susceptibility to neisseria meningitidis infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-neisseria-meningitidis-infection"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "microangiopathic-hemolytic-anemia",
        "name": "Microangiopathic hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/microangiopathic-hemolytic-anemia"
      },
      {
        "slug": "peritonitis",
        "name": "Peritonitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/peritonitis"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      }
    ],
    "related": [
      {
        "slug": "c3",
        "symbol": "C3",
        "name": "complement C3",
        "shared": 6,
        "url": "https://dantelabs.com/cs/genes/c3"
      },
      {
        "slug": "cd46",
        "symbol": "CD46",
        "name": "CD46 molecule",
        "shared": 6,
        "url": "https://dantelabs.com/cs/genes/cd46"
      },
      {
        "slug": "cfi",
        "symbol": "CFI",
        "name": "complement factor I",
        "shared": 6,
        "url": "https://dantelabs.com/cs/genes/cfi"
      },
      {
        "slug": "thbd",
        "symbol": "THBD",
        "name": "thrombomodulin",
        "shared": 6,
        "url": "https://dantelabs.com/cs/genes/thbd"
      },
      {
        "slug": "cfh",
        "symbol": "CFH",
        "name": "complement factor H",
        "shared": 5,
        "url": "https://dantelabs.com/cs/genes/cfh"
      },
      {
        "slug": "dgke",
        "symbol": "DGKE",
        "name": "diacylglycerol kinase epsilon",
        "shared": 5,
        "url": "https://dantelabs.com/cs/genes/dgke"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/btk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}