{
  "url": "https://dantelabs.com/et/genes/plcg2",
  "gene": {
    "slug": "plcg2",
    "symbol": "PLCG2",
    "name": "phospholipase C gamma 2",
    "hgnc": "HGNC:9066",
    "summary": null,
    "location": "16q24.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000197943",
    "entrezId": 5336,
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    "uniprot": [
      "P16885"
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      "release": "v1.5",
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      "strand": "+",
      "ensemblTranscript": "ENST00000564138.6",
      "refseqTranscript": "NM_002661.5",
      "ensemblProtein": "ENSP00000482457.1",
      "refseqProtein": "NP_002652.2",
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      "cds": {
        "start": 81785990,
        "end": 81957998
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 81772702,
      "end": 81991899,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 81370988,
      "end": 82370987,
      "genes": [
        {
          "symbol": "GAN",
          "ensemblId": "ENSG00000261609",
          "biotype": "protein_coding",
          "start": 81314932,
          "end": 81390884,
          "strand": "+",
          "slug": "gan"
        },
        {
          "symbol": "CMIP",
          "ensemblId": "ENSG00000153815",
          "biotype": "protein_coding",
          "start": 81444800,
          "end": 81711762,
          "strand": "+",
          "slug": "cmip"
        },
        {
          "symbol": "SDR42E1",
          "ensemblId": "ENSG00000184860",
          "biotype": "protein_coding",
          "start": 81988855,
          "end": 82011500,
          "strand": "-",
          "slug": "sdr42e1"
        },
        {
          "symbol": "HSD17B2",
          "ensemblId": "ENSG00000086696",
          "biotype": "protein_coding",
          "start": 82008119,
          "end": 82098534,
          "strand": "+",
          "slug": "hsd17b2"
        },
        {
          "symbol": "MPHOSPH6",
          "ensemblId": "ENSG00000135698",
          "biotype": "protein_coding",
          "start": 82131921,
          "end": 82170228,
          "strand": "-",
          "slug": "mphosph6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-periodic-fever-syndromes",
        "name": "Pärilikud perioodilise palaviku sündroomid",
        "diseases": [
          {
            "mondoId": "MONDO:0016168",
            "name": "Krüopüriniga seotud perioodiline sündroom (CAPS)",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Haiguste spekter, mida põhjustavad peamiselt muutused geenis NLRP3. Haigused ulatuvad külmast tingitud lööbest ja palavikust kuni krooniliseni põletikuni, mis mõjutab nahka, liigeseid, kuulmist ja aju.",
            "management": "Interleukiin-1 blokeeriv ravi kontrollib sümptomeid ning aitab ennetada kuulmislangust ja amüloidoosi.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/hereditary-periodic-fever-syndromes"
      },
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Harvinaised monogeensed autoinflammatoorsed haigused",
        "diseases": [
          {
            "mondoId": "MONDO:0013944",
            "name": "APLAID (PLCG2-ga seotud autoinflammatsioon ja immuunregulatsiooni häired)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Villiline nahapõletik, silma, soolte ja kopsude põletik koos antikehade puudulikkusega, mida põhjustavad PLCG2 variandid.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/rare-monogenic-autoinflammatory-diseases"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "allergy",
        "name": "Allergy",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/allergy"
      },
      {
        "slug": "angioedema",
        "name": "Angioedema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/angioedema"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "vitiligo",
        "name": "Blotchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vitiligo"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cold-urticaria",
        "name": "Cold urticaria",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cold-urticaria"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "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-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "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-igm-concentration"
      },
      {
        "slug": "decreased-class-switched-memory-b-cell-proportion",
        "name": "Decreased class-switched memory B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-class-switched-memory-b-cell-proportion"
      },
      {
        "slug": "enterocolitis",
        "name": "Enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enterocolitis"
      },
      {
        "slug": "hashimoto-thyroiditis",
        "name": "Hashimoto thyroiditis",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hashimoto-thyroiditis"
      },
      {
        "slug": "allergic-rhinitis",
        "name": "Hay fever",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/allergic-rhinitis"
      },
      {
        "slug": "immune-dysregulation",
        "name": "Immune dysregulation",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immune-dysregulation"
      },
      {
        "slug": "interstitial-pneumonitis",
        "name": "Interstitial pneumonitis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/interstitial-pneumonitis"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "presyncope",
        "name": "Presyncope",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/presyncope"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-sinopulmonary-infections",
        "name": "Recurrent sinus and lung infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "dermatographic-urticaria",
        "name": "Skin writing",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dermatographic-urticaria"
      },
      {
        "slug": "ulcerative-colitis",
        "name": "Ulcerative colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ulcerative-colitis"
      },
      {
        "slug": "unusual-bronchiolitis",
        "name": "Unusual bronchiolitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/unusual-bronchiolitis"
      },
      {
        "slug": "unusual-fungal-nail-infection",
        "name": "Unusual fungal nail infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unusual-fungal-nail-infection"
      }
    ],
    "related": [
      {
        "slug": "nlrc4",
        "symbol": "NLRC4",
        "name": "NLR family CARD domain containing 4",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/nlrc4"
      },
      {
        "slug": "nlrp12",
        "symbol": "NLRP12",
        "name": "NLR family pyrin domain containing 12",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/nlrp12"
      },
      {
        "slug": "nlrp3",
        "symbol": "NLRP3",
        "name": "NLR family pyrin domain containing 3",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/nlrp3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}