{
  "url": "https://dantelabs.com/fr/genes/ptcra",
  "gene": {
    "slug": "ptcra",
    "symbol": "PTCRA",
    "name": "pre T cell antigen receptor alpha",
    "hgnc": "HGNC:21290",
    "summary": null,
    "location": "6p21.1",
    "locusType": "gene with protein product",
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      "PT-ALPHA"
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    "previousSymbols": [],
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    "entrezId": 171558,
    "omim": [
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    "uniprot": [
      "Q6ISU1"
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      "release": "v1.5",
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      "strand": "+",
      "ensemblTranscript": "ENST00000304672.6",
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      "ensemblProtein": "ENSP00000304447.2",
      "refseqProtein": "NP_612153.2",
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    },
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      "build": "GRCh37",
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      "end": 42893573,
      "strand": "+"
    },
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        {
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        {
          "symbol": "UBR2",
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        {
          "symbol": "PRPH2",
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        {
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          "slug": "tbcc"
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        {
          "symbol": "BICRAL",
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          "slug": "bicral"
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        {
          "symbol": "RPL7L1",
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        {
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        {
          "symbol": "CNPY3",
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        {
          "symbol": "PEX6",
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        {
          "symbol": "GNMT",
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        },
        {
          "symbol": "PPP2R5D",
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        {
          "symbol": "MEA1",
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        {
          "symbol": "KLHDC3",
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        {
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        },
        {
          "symbol": "CUL7",
          "ensemblId": "ENSG00000044090",
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        {
          "symbol": "KLC4",
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        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288564",
          "biotype": "protein_coding",
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          "end": 43058185,
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        },
        {
          "symbol": "MRPL2",
          "ensemblId": "ENSG00000112651",
          "biotype": "protein_coding",
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          "end": 43059464,
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          "slug": "mrpl2"
        },
        {
          "symbol": "PTK7",
          "ensemblId": "ENSG00000112655",
          "biotype": "protein_coding",
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          "slug": "ptk7"
        },
        {
          "symbol": "SRF",
          "ensemblId": "ENSG00000112658",
          "biotype": "protein_coding",
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          "end": 43181506,
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          "slug": "srf"
        },
        {
          "symbol": "CUL9",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cul9"
        },
        {
          "symbol": "DNPH1",
          "ensemblId": "ENSG00000112667",
          "biotype": "protein_coding",
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          "end": 43229490,
          "strand": "-",
          "slug": "dnph1"
        },
        {
          "symbol": "TTBK1",
          "ensemblId": "ENSG00000146216",
          "biotype": "protein_coding",
          "start": 43243481,
          "end": 43288258,
          "strand": "+",
          "slug": "ttbk1"
        },
        {
          "symbol": "SLC22A7",
          "ensemblId": "ENSG00000137204",
          "biotype": "protein_coding",
          "start": 43295694,
          "end": 43305543,
          "strand": "+",
          "slug": "slc22a7"
        },
        {
          "symbol": "CRIP3",
          "ensemblId": "ENSG00000146215",
          "biotype": "protein_coding",
          "start": 43299710,
          "end": 43308878,
          "strand": "-",
          "slug": "crip3"
        },
        {
          "symbol": "ZNF318",
          "ensemblId": "ENSG00000171467",
          "biotype": "protein_coding",
          "start": 43307134,
          "end": 43369687,
          "strand": "-",
          "slug": "znf318"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Autres erreurs innées de l'immunité",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Déficit immunitaire",
            "genes": 170,
            "inheritance": null,
            "description": "Maladie caractérisée par une déficience ou une anomalie des mécanismes de l'immunité, qu'elle soit cellulaire ou humorale.",
            "management": "HSCT pour le SCID et les DIP sévères ; traitement substitutif par immunoglobulines (IVIG/SCIG) pour les déficits en anticorps ; leniolisib (Joenja, FDA 2023) pour l'APDS ; thérapie génique pour l'ADA-SCID ; abatacept pour le déficit en CTLA4/LRBA ; antibioprophylaxie ; G-CSF pour la CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormally-low-t-cell-receptor-excision-circle-level",
        "name": "Abnormally low T cell receptor excision circle level",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormally-low-t-cell-receptor-excision-circle-level"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "allergy",
        "name": "Allergy",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/allergy"
      },
      {
        "slug": "alopecia-universalis",
        "name": "Alopecia universalis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alopecia-universalis"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "anti-thyroglobulin-antibody-positivity",
        "name": "Anti-thyroglobulin antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-thyroglobulin-antibody-positivity"
      },
      {
        "slug": "anti-thyroid-peroxidase-antibody-positivity",
        "name": "Anti-thyroid peroxidase antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-thyroid-peroxidase-antibody-positivity"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "chronic-tinea-infection",
        "name": "Chronic tinea infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-tinea-infection"
      },
      {
        "slug": "clubbing-of-fingers",
        "name": "Clubbing of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clubbing-of-fingers"
      },
      {
        "slug": "crackles",
        "name": "Crackles",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/crackles"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "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": "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": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-naive-cd4-t-cell-proportion",
        "name": "Decreased naive CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-naive-cd4-t-cell-proportion"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "keratoconjunctivitis-sicca",
        "name": "Dry eye syndrome",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca"
      },
      {
        "slug": "duodenitis",
        "name": "Duodenitis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/duodenitis"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "erythroid-dysplasia",
        "name": "Erythroid dysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroid-dysplasia"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "follicular-hyperplasia",
        "name": "Follicular hyperplasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/follicular-hyperplasia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "increased-total-lymphocyte-count",
        "name": "High lymphocyte count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-lymphocyte-count"
      },
      {
        "slug": "hyporeflexia-of-lower-limbs",
        "name": "Hyporeflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia-of-lower-limbs"
      },
      {
        "slug": "impaired-heel-walking-ability",
        "name": "Impaired heel-walking ability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-heel-walking-ability"
      },
      {
        "slug": "impaired-toe-walking-ability",
        "name": "Impaired toe-walking ability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-toe-walking-ability"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "lymphadenitis",
        "name": "Inflammation of the lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphadenitis"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "asthenia",
        "name": "Lack of energy and strength",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/asthenia"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "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"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "low-back-pain",
        "name": "Lumbago",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-back-pain"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "hyperthyroidism",
        "name": "Overactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperthyroidism"
      },
      {
        "slug": "panhypogammaglobulinemia",
        "name": "Panhypogammaglobulinemia",
        "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/panhypogammaglobulinemia"
      },
      {
        "slug": "partial-absence-of-specific-antibody-response-to-tetanus-vaccine",
        "name": "Partial absence of specific antibody response to tetanus vaccine",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/partial-absence-of-specific-antibody-response-to-tetanus-vaccine"
      },
      {
        "slug": "partial-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide",
        "name": "Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/partial-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide"
      },
      {
        "slug": "perianal-anesthesia",
        "name": "Perianal anesthesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/perianal-anesthesia"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "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": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "recurrent-herpes",
        "name": "Susceptibility to herpesvirus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-herpes"
      },
      {
        "slug": "mediastinal-lymphadenopathy",
        "name": "Swollen lymph nodes in center of chest",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-thoracic-cavity"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mediastinal-lymphadenopathy"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "urinary-retention",
        "name": "Urinary retention",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/urinary-retention"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "productive-cough",
        "name": "Wet cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/productive-cough"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}