{
  "url": "https://dantelabs.com/nl/genes/sec61a1",
  "gene": {
    "slug": "sec61a1",
    "symbol": "SEC61A1",
    "name": "SEC61 translocon subunit alpha 1",
    "hgnc": "HGNC:18276",
    "summary": null,
    "location": "3q21.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000058262",
    "entrezId": 29927,
    "omim": [
      "609213"
    ],
    "uniprot": [
      "P61619"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 128052437,
      "end": 128071683,
      "strand": "+",
      "ensemblTranscript": "ENST00000243253.8",
      "refseqTranscript": "NM_013336.4",
      "ensemblProtein": "ENSP00000243253.3",
      "refseqProtein": "NP_037468.1",
      "exons": [
        {
          "start": 128052437,
          "end": 128052559
        },
        {
          "start": 128052835,
          "end": 128052902
        },
        {
          "start": 128055516,
          "end": 128055581
        },
        {
          "start": 128055673,
          "end": 128055751
        },
        {
          "start": 128056709,
          "end": 128056840
        },
        {
          "start": 128060102,
          "end": 128060211
        },
        {
          "start": 128060508,
          "end": 128060661
        },
        {
          "start": 128064877,
          "end": 128065037
        },
        {
          "start": 128066954,
          "end": 128067151
        },
        {
          "start": 128067421,
          "end": 128067612
        },
        {
          "start": 128067983,
          "end": 128068059
        },
        {
          "start": 128069476,
          "end": 128071683
        }
      ],
      "cds": {
        "start": 128052553,
        "end": 128069662
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 127770484,
      "end": 127790526,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 127562060,
      "end": 128562059,
      "genes": [
        {
          "symbol": "TPRA1",
          "ensemblId": "ENSG00000163870",
          "biotype": "protein_coding",
          "start": 127571232,
          "end": 127598318,
          "strand": "-",
          "slug": "tpra1"
        },
        {
          "symbol": "MCM2",
          "ensemblId": "ENSG00000073111",
          "biotype": "protein_coding",
          "start": 127598223,
          "end": 127622442,
          "strand": "+",
          "slug": "mcm2"
        },
        {
          "symbol": "PODXL2",
          "ensemblId": "ENSG00000114631",
          "biotype": "protein_coding",
          "start": 127629143,
          "end": 127672810,
          "strand": "+",
          "slug": "podxl2"
        },
        {
          "symbol": "ABTB1",
          "ensemblId": "ENSG00000114626",
          "biotype": "protein_coding",
          "start": 127672894,
          "end": 127683197,
          "strand": "+",
          "slug": "abtb1"
        },
        {
          "symbol": "MGLL",
          "ensemblId": "ENSG00000074416",
          "biotype": "protein_coding",
          "start": 127689062,
          "end": 128052190,
          "strand": "-",
          "slug": "mgll"
        },
        {
          "symbol": "KBTBD12",
          "ensemblId": "ENSG00000187715",
          "biotype": "protein_coding",
          "start": 127915207,
          "end": 127989100,
          "strand": "+",
          "slug": "kbtbd12"
        },
        {
          "symbol": "RUVBL1",
          "ensemblId": "ENSG00000175792",
          "biotype": "protein_coding",
          "start": 128063024,
          "end": 128153914,
          "strand": "-",
          "slug": "ruvbl1"
        },
        {
          "symbol": "EEFSEC",
          "ensemblId": "ENSG00000132394",
          "biotype": "protein_coding",
          "start": 128153174,
          "end": 128427044,
          "strand": "+",
          "slug": "eefsec"
        },
        {
          "symbol": "DNAJB8",
          "ensemblId": "ENSG00000179407",
          "biotype": "protein_coding",
          "start": 128462437,
          "end": 128466968,
          "strand": "-",
          "slug": "dnajb8"
        },
        {
          "symbol": "GATA2",
          "ensemblId": "ENSG00000179348",
          "biotype": "protein_coding",
          "start": 128479423,
          "end": 128493208,
          "strand": "-",
          "slug": "gata2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-dominant-tubulointerstitial-kidney-disease",
        "name": "Autosomale dominante tubulointerstitiële nierziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0000608",
            "name": "Familiale juveniele hyperurikemische nefropathie",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "Een dominant overerfelijke tubulointerstitiële nierziekte, meestal veroorzaakt door varianten in UMOD (en ook in REN of SEC61A1), met een verhoogd urinezuurgehalte, vroegtijdig jicht en geleidelijk verlies van nierfunctie.",
            "management": "Het weten hiervan helpt bij het volgen van uw nierfunctie, de behandeling van jicht en een zorgvuldige beoordeling van eventuele levende nierdonoren in uw familie; de REN-vorm kan reageren op fludrocortison.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/autosomal-dominant-tubulointerstitial-kidney-disease"
      },
      {
        "slug": "common-variable-immunodeficiency",
        "name": "Common Variable Immunodeficiency (monogene CVID)",
        "diseases": [
          {
            "mondoId": "MONDO:0015517",
            "name": "Common variable immunodeficiency",
            "genes": 10,
            "inheritance": null,
            "description": "Laag IgG met laag IgA en/of IgM en een slechte reactie op vaccinaties; vormen met één gen omvatten NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 en TNFRSF13B (TACI).",
            "management": "Vervanging met immunoglobulinen en vroege behandeling van infecties zijn standaard. Een genetische oorzaak kan u helpen bij de controle op auto-immuniteit, lymfoom en longziekte, en sommige vormen (zoals LRBA-deficiëntie) reageren op gerichte therapie.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/common-variable-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Overige aangeboren immuunstoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Aangeboren immuundeficiëntie",
            "genes": 114,
            "inheritance": null,
            "description": "Erfelijke aandoeningen van het immuunsysteem die worden veroorzaakt door veranderingen in één gen en die invloed hebben op hoe het lichaam infecties bestrijdt of ontstekingen reguleert.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immuundeficiëntieziekte",
            "genes": 170,
            "inheritance": null,
            "description": "Ziekte waarbij er een tekort of defect is in de mechanismen van de immuniteit, zowel cellulair als humoraal.",
            "management": "HSCT bij SCID en ernstige PID's; immunoglobulinevervangende therapie (IVIG/SCIG) bij antilichaamdeficiënties; leniolisib (Joenja, FDA 2023) bij APDS; genetherapie bij ADA-SCID; abatacept bij CTLA4- of LRBA-deficiëntie; profylactische antibiotica; G-CSF bij CGD",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "bone-marrow-maturation-arrest",
        "name": "Bone marrow maturation arrest",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-marrow-maturation-arrest"
      },
      {
        "slug": "aphthous-ulcer",
        "name": "Canker sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aphthous-ulcer"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "complete-or-near-complete-absence-of-specific-antibody-response-to-tetanus-vaccine",
        "name": "Complete or near-complete absence of specific antibody response to tetanus vaccine",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/complete-or-near-complete-absence-of-specific-antibody-response-to-tetanus-vaccine"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-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": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "decreased-specific-antibody-response-to-protein-conjugated-polysaccharide-vaccine",
        "name": "Decreased specific antibody response to protein-conjugated polysaccharide vaccine",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-specific-antibody-response-to-protein-conjugated-polysaccharide-vaccine"
      },
      {
        "slug": "decreased-specific-antibody-response-to-unconjugated-polysaccharide-vaccine",
        "name": "Decreased specific antibody response to unconjugated polysaccharide vaccine",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-specific-antibody-response-to-unconjugated-polysaccharide-vaccine"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "decreased-urinary-uromodulin-level",
        "name": "Decreased urinary uromodulin level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-urinary-uromodulin-level"
      },
      {
        "slug": "elevated-circulating-parathyroid-hormone-level",
        "name": "Elevated circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "episodic-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "frequent-giardia-lamblia-infestation",
        "name": "Frequent Giardia lamblia infestation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frequent-giardia-lamblia-infestation"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "increased-total-monocyte-count",
        "name": "High blood monocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-monocyte-count"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "impaired-renal-concentrating-ability",
        "name": "Impaired renal concentrating ability",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-renal-concentrating-ability"
      },
      {
        "slug": "increased-blood-urea-nitrogen",
        "name": "Increased blood urea nitrogen",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-blood-urea-nitrogen"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased 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/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-igg2-concentration",
        "name": "Increased circulating IgG2 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/increased-circulating-igg2-concentration"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "increased-plasmablast-proportion",
        "name": "Increased plasmablast proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-plasmablast-proportion"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "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": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "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": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "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": "perianal-abscess",
        "name": "Perianal abscess",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/perianal-abscess"
      },
      {
        "slug": "pleural-empyema",
        "name": "Pleural empyema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pleural-empyema"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "poor-wound-healing",
        "name": "Poor wound healing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-wound-healing"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "recurrent-bronchitis",
        "name": "Recurrent bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-bronchitis"
      },
      {
        "slug": "recurrent-aphthous-stomatitis",
        "name": "Recurrent canker sores",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis"
      },
      {
        "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-cutaneous-abscess-formation",
        "name": "Recurrent cutaneous abscess formation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-cutaneous-abscess-formation"
      },
      {
        "slug": "recurrent-gingivitis",
        "name": "Recurrent gingivitis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-gingivitis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-tonsillitis",
        "name": "Recurrent inflammation of tonsils",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-tonsillitis"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent 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/recurrent-sinusitis"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "thickening-of-the-tubular-basement-membrane",
        "name": "Thickening of the tubular basement membrane",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thickening-of-the-tubular-basement-membrane"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "verrucae",
        "name": "Warts",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/verrucae"
      }
    ],
    "related": [
      {
        "slug": "cd19",
        "symbol": "CD19",
        "name": "CD19 molecule",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/cd19"
      },
      {
        "slug": "cr2",
        "symbol": "CR2",
        "name": "complement C3d receptor 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/cr2"
      },
      {
        "slug": "icos",
        "symbol": "ICOS",
        "name": "inducible T cell costimulator",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/icos"
      },
      {
        "slug": "ikzf1",
        "symbol": "IKZF1",
        "name": "IKAROS family zinc finger 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ikzf1"
      },
      {
        "slug": "irf2bp2",
        "symbol": "IRF2BP2",
        "name": "interferon regulatory factor 2 binding protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/irf2bp2"
      },
      {
        "slug": "lrba",
        "symbol": "LRBA",
        "name": "LPS responsive beige-like anchor protein",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/lrba"
      },
      {
        "slug": "nfkb1",
        "symbol": "NFKB1",
        "name": "nuclear factor kappa B subunit 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/nfkb1"
      },
      {
        "slug": "nfkb2",
        "symbol": "NFKB2",
        "name": "nuclear factor kappa B subunit 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/nfkb2"
      },
      {
        "slug": "tnfrsf13b",
        "symbol": "TNFRSF13B",
        "name": "TNF receptor superfamily member 13B",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/tnfrsf13b"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/bcl10"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}