{
  "url": "https://dantelabs.com/da/genes/stat1",
  "gene": {
    "slug": "stat1",
    "symbol": "STAT1",
    "name": "signal transducer and activator of transcription 1",
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    "summary": null,
    "location": "2q32.2",
    "locusType": "gene with protein product",
    "aliases": [
      "STAT91",
      "ISGF-3"
    ],
    "previousSymbols": [],
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    "omim": [
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    "uniprot": [
      "P42224"
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      "release": "v1.5",
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      "strand": "-",
      "ensemblTranscript": "ENST00000361099.8",
      "refseqTranscript": "NM_007315.4",
      "ensemblProtein": "ENSP00000354394.4",
      "refseqProtein": "NP_009330.1",
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      ],
      "cds": {
        "start": 190970703,
        "end": 191010003
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 191829084,
      "end": 191885686,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 190491660,
      "end": 191491659,
      "genes": [
        {
          "symbol": "MFSD6",
          "ensemblId": "ENSG00000151690",
          "biotype": "protein_coding",
          "start": 190407896,
          "end": 190509205,
          "strand": "+",
          "slug": "mfsd6"
        },
        {
          "symbol": "NEMP2",
          "ensemblId": "ENSG00000189362",
          "biotype": "protein_coding",
          "start": 190434216,
          "end": 190534787,
          "strand": "-",
          "slug": "nemp2"
        },
        {
          "symbol": "NAB1",
          "ensemblId": "ENSG00000138386",
          "biotype": "protein_coding",
          "start": 190646746,
          "end": 190695528,
          "strand": "+",
          "slug": "nab1"
        },
        {
          "symbol": "GLS",
          "ensemblId": "ENSG00000115419",
          "biotype": "protein_coding",
          "start": 190880322,
          "end": 190965552,
          "strand": "+",
          "slug": "gls"
        },
        {
          "symbol": "STAT4",
          "ensemblId": "ENSG00000138378",
          "biotype": "protein_coding",
          "start": 191029570,
          "end": 191178435,
          "strand": "-",
          "slug": "stat4"
        },
        {
          "symbol": "MYO1B",
          "ensemblId": "ENSG00000128641",
          "biotype": "protein_coding",
          "start": 191245064,
          "end": 191425820,
          "strand": "+",
          "slug": "myo1b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autoimmune-disease",
        "name": "Autoimmun sygdom",
        "diseases": [
          {
            "mondoId": "MONDO:0007179",
            "name": "Autoimmun sygdom",
            "genes": 20,
            "inheritance": null,
            "description": "En lidelse, der skyldes tab af funktion eller vævsnedbrydning i et organ eller flere organer, og som opstår ved humorale eller cellulære immunreaktioner hos det enkelte individ mod egne vævsbestanddele. Den kan være systemisk (f.eks. systemisk lupus erythematosus) eller organspecifik (f.eks. thyreoiditis).",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/autoimmune-disease"
      },
      {
        "slug": "chronic-mucocutaneous-candidiasis",
        "name": "Kronisk mukokutan candidiasis",
        "diseases": [
          {
            "mondoId": "MONDO:0015279",
            "name": "Kronisk mukokutan candidiasis",
            "genes": 4,
            "inheritance": null,
            "description": "Vedvarende eller tilbagevendende Candida-infektioner i hud, negle og slimhinder forårsaget af ændringer i gener såsom STAT1, IL17RA, IL17RC, IL17F og TRAF3IP2.",
            "management": "Kendskab til årsagen vejleder langvarig antifungal behandling og, ved STAT1-gain-of-function, overvågning for autoimmunitet og aneurismer samt overvejelse af målrettet JAK-hæmmerbehandling.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/chronic-mucocutaneous-candidiasis"
      },
      {
        "slug": "mendelian-susceptibility-to-mycobacterial-disease",
        "name": "Mendelsk modtagelighed for mykobakterielle sygdomme (MSMD)",
        "diseases": [
          {
            "mondoId": "MONDO:0013427",
            "name": "Komplet STAT1-mangel",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Alvorlige mykobakterielle infektioner og livstruende virusinfektioner forårsaget af ændringer i begge kopier af STAT1.",
            "management": "Der er som regel behov for stamcelletransplantation.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019146",
            "name": "Mendelsk modtagelighed for mykobakterielle sygdomme",
            "genes": 8,
            "inheritance": null,
            "description": "Arvelige defekter i IL-12/interferon-gamma-signalvejen, forårsaget af gener såsom IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 og RORC.",
            "management": "Berørte personer og risikopersoner blandt slægtninge bør undgå BCG og andre levende vacciner. Infektioner kræver langvarig behandling, og nogle former reagerer på interferon-gamma.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/mendelian-susceptibility-to-mycobacterial-disease"
      },
      {
        "slug": "stat1-stat3-gain-of-function",
        "name": "Sygdomme med gain-of-function i STAT1 og STAT3",
        "diseases": [
          {
            "mondoId": "MONDO:0013599",
            "name": "Sygdom med gain-of-function i STAT1 og autoimmunitet",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Enteropati, endokrin autoimmunitet, bakterielle og svampeinfektioner og lav statur forårsaget af en aktiverende ændring i STAT1.",
            "management": "JAK-hæmmere kan kontrollere symptomerne, og kontrol for aneurysmer og infektioner anbefales.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/stat1-stat3-gain-of-function"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Andre medfødte immunsvigt",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Medfødt immundefekt",
            "genes": 114,
            "inheritance": null,
            "description": "Arvelige sygdomme i immunsystemet, forårsaget af ændringer i enkelte gener, som påvirker kroppens evne til at bekæmpe infektioner eller regulere inflammation.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunsvigtsygdom",
            "genes": 170,
            "inheritance": null,
            "description": "Sygdom, hvor der er mangel på eller defekt i immunforsvarets mekanismer, enten cellulære eller humorale.",
            "management": "HSCT ved SCID og alvorlige PID'er; immunglobulinbehandling (IVIG/SCIG) ved antistofmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4-/LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/da/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-interferon-gamma-concentration",
        "name": "Abnormal circulating interferon-gamma concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-interferon-gamma-concentration"
      },
      {
        "slug": "abnormality-of-the-endocrine-system",
        "name": "Abnormality of the endocrine system",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-endocrine-system"
      },
      {
        "slug": "abnormal-intestine-morphology",
        "name": "Abnormality of the intestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-intestine-morphology"
      },
      {
        "slug": "antiphospholipid-antibody-positivity",
        "name": "Antiphospholipid antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/antiphospholipid-antibody-positivity"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "autoimmune-neutropenia",
        "name": "Autoimmune neutropenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmune-neutropenia"
      },
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "bcgitis",
        "name": "BCGitis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bcgitis"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "infectious-encephalitis",
        "name": "Brain inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infectious-encephalitis"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "carotid-artery-dilatation",
        "name": "Carotid artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/carotid-artery-dilatation"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "slug": "coccidioidomycosis",
        "name": "Coccidioidomycosis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coccidioidomycosis"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "decreased-anti-cd3-28-induced-t-cell-proliferation",
        "name": "Decreased anti-CD3/28-induced T-cell proliferation",
        "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-anti-cd3-28-induced-t-cell-proliferation"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "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": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "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": "enterocolitis",
        "name": "Enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enterocolitis"
      },
      {
        "slug": "esophageal-carcinoma",
        "name": "Esophageal carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-carcinoma"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "functional-abnormality-of-the-bladder",
        "name": "Functional abnormality of the bladder",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/functional-abnormality-of-the-bladder"
      },
      {
        "slug": "gastrointestinal-eosinophilia",
        "name": "Gastrointestinal eosinophilia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-eosinophilia"
      },
      {
        "slug": "generalized-osteoporosis",
        "name": "Generalized osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-osteoporosis"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hsv-encephalitis",
        "name": "HSV encephalitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hsv-encephalitis"
      },
      {
        "slug": "immune-dysregulation",
        "name": "Immune dysregulation",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/immune-dysregulation"
      },
      {
        "slug": "impaired-phytohemagglutinin-induced-t-lymphocyte-transformation",
        "name": "Impaired phytohemagglutinin-induced T lymphocyte transformation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-phytohemagglutinin-induced-t-lymphocyte-transformation"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "inflammatory-abnormality-of-the-skin",
        "name": "Inflammatory abnormality of the skin",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inflammatory-abnormality-of-the-skin"
      },
      {
        "slug": "intussusception",
        "name": "Intussusception",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intussusception"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "decreased-total-t-cell-count",
        "name": "Low T cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "medial-calcification-of-large-arteries",
        "name": "Medial calcification of large arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/medial-calcification-of-large-arteries"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "renal-artery-stenosis",
        "name": "Narrowing of kidney artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-artery-stenosis"
      },
      {
        "slug": "oropharyngeal-squamous-cell-carcinoma",
        "name": "Oropharyngeal squamous cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oropharyngeal-squamous-cell-carcinoma"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "primary-hypothyroidism",
        "name": "Primary hypothyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/primary-hypothyroidism"
      },
      {
        "slug": "protein-losing-enteropathy",
        "name": "Protein-losing enteropathy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protein-losing-enteropathy"
      },
      {
        "slug": "recurrent-aspergillus-infection",
        "name": "Recurrent Aspergillus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-aspergillus-infection"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-mucocutaneous-candidiasis",
        "name": "Recurrent mucocutaneous candidiasis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis"
      },
      {
        "slug": "recurrent-mycobacterial-infections",
        "name": "Recurrent mycobacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections"
      },
      {
        "slug": "recurrent-mycobacterium-avium-complex-infections",
        "name": "Recurrent mycobacterium avium complex infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-mycobacterium-avium-complex-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "recurrent-vulvovaginal-candidiasis",
        "name": "Recurrent vulvovaginal candidiasis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-vulvovaginal-candidiasis"
      },
      {
        "slug": "renovascular-hypertension",
        "name": "Renovascular hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renovascular-hypertension"
      },
      {
        "slug": "severe-histoplasma-capsulatum-infection",
        "name": "Severe Histoplasma capsulatum infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-histoplasma-capsulatum-infection"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "pulmonary-nodule",
        "name": "Spot on the lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-nodule"
      },
      {
        "slug": "recurrent-herpes",
        "name": "Susceptibility to herpesvirus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-herpes"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "thyroiditis",
        "name": "Thyroid gland inflammation",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thyroiditis"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "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"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/c1qa"
      },
      {
        "slug": "il17ra",
        "symbol": "IL17RA",
        "name": "interleukin 17 receptor A",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/il17ra"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "name": "signal transducer and activator of transcription 3",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/stat3"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/btk"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/c1qc"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/c1s"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}