{
  "url": "https://dantelabs.com/it/genes/aire",
  "gene": {
    "slug": "aire",
    "symbol": "AIRE",
    "name": "autoimmune regulator",
    "hgnc": "HGNC:360",
    "summary": null,
    "location": "21q22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "PGA1",
      "APS1"
    ],
    "previousSymbols": [
      "APECED"
    ],
    "ensemblId": "ENSG00000160224",
    "entrezId": 326,
    "omim": [
      "607358"
    ],
    "uniprot": [
      "O43918"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 44285876,
      "end": 44298648,
      "strand": "+",
      "ensemblTranscript": "ENST00000291582.6",
      "refseqTranscript": "NM_000383.4",
      "ensemblProtein": "ENSP00000291582.5",
      "refseqProtein": "NP_000374.1",
      "exons": [
        {
          "start": 44285876,
          "end": 44286138
        },
        {
          "start": 44286557,
          "end": 44286731
        },
        {
          "start": 44286978,
          "end": 44287133
        },
        {
          "start": 44287517,
          "end": 44287591
        },
        {
          "start": 44288345,
          "end": 44288458
        },
        {
          "start": 44289657,
          "end": 44289802
        },
        {
          "start": 44289988,
          "end": 44290068
        },
        {
          "start": 44291095,
          "end": 44291210
        },
        {
          "start": 44292302,
          "end": 44292401
        },
        {
          "start": 44292993,
          "end": 44293175
        },
        {
          "start": 44293789,
          "end": 44293910
        },
        {
          "start": 44294401,
          "end": 44294503
        },
        {
          "start": 44296383,
          "end": 44296445
        },
        {
          "start": 44297656,
          "end": 44298648
        }
      ],
      "cds": {
        "start": 44286007,
        "end": 44297727
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 45705721,
      "end": 45718531,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43792262,
      "end": 44792261,
      "genes": [
        {
          "symbol": "RRP1",
          "ensemblId": "ENSG00000160214",
          "biotype": "protein_coding",
          "start": 43789513,
          "end": 43821500,
          "strand": "+",
          "slug": "rrp1"
        },
        {
          "symbol": "AGPAT3",
          "ensemblId": "ENSG00000160216",
          "biotype": "protein_coding",
          "start": 43865081,
          "end": 43987592,
          "strand": "+",
          "slug": "agpat3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288593",
          "biotype": "protein_coding",
          "start": 43939919,
          "end": 43959673,
          "strand": "+"
        },
        {
          "symbol": "TRAPPC10",
          "ensemblId": "ENSG00000160218",
          "biotype": "protein_coding",
          "start": 44012280,
          "end": 44106553,
          "strand": "+",
          "slug": "trappc10"
        },
        {
          "symbol": "PWP2",
          "ensemblId": "ENSG00000241945",
          "biotype": "protein_coding",
          "start": 44107306,
          "end": 44131181,
          "strand": "+",
          "slug": "pwp2"
        },
        {
          "symbol": "GATD3",
          "ensemblId": "ENSG00000160221",
          "biotype": "protein_coding",
          "start": 44133610,
          "end": 44210114,
          "strand": "+",
          "slug": "gatd3"
        },
        {
          "symbol": "ICOSLG",
          "ensemblId": "ENSG00000160223",
          "biotype": "protein_coding",
          "start": 44215382,
          "end": 44241446,
          "strand": "-",
          "slug": "icoslg"
        },
        {
          "symbol": "DNMT3L",
          "ensemblId": "ENSG00000142182",
          "biotype": "protein_coding",
          "start": 44246339,
          "end": 44262216,
          "strand": "-",
          "slug": "dnmt3l"
        },
        {
          "symbol": "PFKL",
          "ensemblId": "ENSG00000141959",
          "biotype": "protein_coding",
          "start": 44300017,
          "end": 44327377,
          "strand": "+",
          "slug": "pfkl"
        },
        {
          "symbol": "CFAP410",
          "ensemblId": "ENSG00000160226",
          "biotype": "protein_coding",
          "start": 44328943,
          "end": 44339427,
          "strand": "-",
          "slug": "cfap410"
        },
        {
          "symbol": "TRPM2",
          "ensemblId": "ENSG00000142185",
          "biotype": "protein_coding",
          "start": 44350072,
          "end": 44445246,
          "strand": "+",
          "slug": "trpm2"
        },
        {
          "symbol": "LRRC3",
          "ensemblId": "ENSG00000160233",
          "biotype": "protein_coding",
          "start": 44455472,
          "end": 44463452,
          "strand": "+",
          "slug": "lrrc3"
        },
        {
          "symbol": "TSPEAR",
          "ensemblId": "ENSG00000175894",
          "biotype": "protein_coding",
          "start": 44497893,
          "end": 44712286,
          "strand": "-",
          "slug": "tspear"
        },
        {
          "symbol": "KRTAP10-1",
          "ensemblId": "ENSG00000215455",
          "biotype": "protein_coding",
          "start": 44538981,
          "end": 44540195,
          "strand": "-",
          "slug": "krtap10-1"
        },
        {
          "symbol": "KRTAP10-2",
          "ensemblId": "ENSG00000205445",
          "biotype": "protein_coding",
          "start": 44550357,
          "end": 44551505,
          "strand": "-",
          "slug": "krtap10-2"
        },
        {
          "symbol": "KRTAP10-3",
          "ensemblId": "ENSG00000212935",
          "biotype": "protein_coding",
          "start": 44557790,
          "end": 44558795,
          "strand": "-",
          "slug": "krtap10-3"
        },
        {
          "symbol": "KRTAP10-4",
          "ensemblId": "ENSG00000215454",
          "biotype": "protein_coding",
          "start": 44573729,
          "end": 44575371,
          "strand": "+",
          "slug": "krtap10-4"
        },
        {
          "symbol": "KRTAP10-5",
          "ensemblId": "ENSG00000241123",
          "biotype": "protein_coding",
          "start": 44579455,
          "end": 44580604,
          "strand": "-",
          "slug": "krtap10-5"
        },
        {
          "symbol": "KRTAP10-6",
          "ensemblId": "ENSG00000188155",
          "biotype": "protein_coding",
          "start": 44591268,
          "end": 44592505,
          "strand": "-",
          "slug": "krtap10-6"
        },
        {
          "symbol": "KRTAP10-7",
          "ensemblId": "ENSG00000272804",
          "biotype": "protein_coding",
          "start": 44600597,
          "end": 44602174,
          "strand": "+",
          "slug": "krtap10-7"
        },
        {
          "symbol": "KRTAP10-8",
          "ensemblId": "ENSG00000187766",
          "biotype": "protein_coding",
          "start": 44612079,
          "end": 44612954,
          "strand": "+",
          "slug": "krtap10-8"
        },
        {
          "symbol": "KRTAP10-9",
          "ensemblId": "ENSG00000221837",
          "biotype": "protein_coding",
          "start": 44627093,
          "end": 44628378,
          "strand": "+",
          "slug": "krtap10-9"
        },
        {
          "symbol": "KRTAP10-10",
          "ensemblId": "ENSG00000221859",
          "biotype": "protein_coding",
          "start": 44637356,
          "end": 44638455,
          "strand": "+",
          "slug": "krtap10-10"
        },
        {
          "symbol": "KRTAP10-11",
          "ensemblId": "ENSG00000243489",
          "biotype": "protein_coding",
          "start": 44646414,
          "end": 44647650,
          "strand": "+",
          "slug": "krtap10-11"
        },
        {
          "symbol": "KRTAP12-4",
          "ensemblId": "ENSG00000212933",
          "biotype": "protein_coding",
          "start": 44654213,
          "end": 44654659,
          "strand": "-",
          "slug": "krtap12-4"
        },
        {
          "symbol": "KRTAP12-3",
          "ensemblId": "ENSG00000205439",
          "biotype": "protein_coding",
          "start": 44657932,
          "end": 44658341,
          "strand": "+",
          "slug": "krtap12-3"
        },
        {
          "symbol": "KRTAP12-2",
          "ensemblId": "ENSG00000221864",
          "biotype": "protein_coding",
          "start": 44666189,
          "end": 44666927,
          "strand": "-",
          "slug": "krtap12-2"
        },
        {
          "symbol": "KRTAP12-1",
          "ensemblId": "ENSG00000187175",
          "biotype": "protein_coding",
          "start": 44681576,
          "end": 44682163,
          "strand": "-",
          "slug": "krtap12-1"
        },
        {
          "symbol": "KRTAP10-12",
          "ensemblId": "ENSG00000189169",
          "biotype": "protein_coding",
          "start": 44697172,
          "end": 44698044,
          "strand": "+",
          "slug": "krtap10-12"
        },
        {
          "symbol": "UBE2G2",
          "ensemblId": "ENSG00000184787",
          "biotype": "protein_coding",
          "start": 44768580,
          "end": 44801826,
          "strand": "-",
          "slug": "ube2g2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autoimmune-disease",
        "name": "Malattia autoimmune",
        "diseases": [
          {
            "mondoId": "MONDO:0007179",
            "name": "Malattia autoimmune",
            "genes": 20,
            "inheritance": null,
            "description": "Un disturbo derivante dalla perdita di funzione o dalla distruzione tissutale di uno o più organi, causato da risposte immunitarie umorali o cellulari dell'individuo dirette contro i costituenti dei propri tessuti. Può essere sistemico (ad es. lupus eritematoso sistemico) oppure organo-specifico (ad es. tiroidite).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/autoimmune-disease"
      },
      {
        "slug": "autoimmune-polyendocrine-syndrome-type-1",
        "name": "Sindrome poliendocrina autoimmune di tipo 1 (APECED)",
        "diseases": [
          {
            "mondoId": "MONDO:0009411",
            "name": "Sindrome poliendocrina autoimmune di tipo 1",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Poliendocrinopatia autoimmune-candidosi-distrofia ectodermica (APECED), causata da varianti di AIRE; più comune nelle popolazioni finlandese, sarda e ebraica iraniana.",
            "management": "Una diagnosi precoce consente di monitorare l'insufficienza surrenalica e i bassi livelli di calcio, così da poter prevenire le crisi.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/autoimmune-polyendocrine-syndrome-type-1"
      },
      {
        "slug": "thyroid-cancer-report",
        "name": "Cancro della tiroide",
        "diseases": [
          {
            "mondoId": "MONDO:0001223",
            "name": "Disturbo delle paratiroidi",
            "genes": 10,
            "inheritance": null,
            "description": "Una patologia a carico delle ghiandole paratiroidi.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/thyroid-cancer-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-calcium-phosphate-regulating-hormone-concentration",
        "name": "Abnormal circulating calcium-phosphate regulating hormone concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-calcium-phosphate-regulating-hormone-concentration"
      },
      {
        "slug": "abnormal-cerebral-vascular-morphology",
        "name": "Abnormality of the cerebral blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology"
      },
      {
        "slug": "asplenia",
        "name": "Absent spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asplenia"
      },
      {
        "slug": "adrenal-insufficiency",
        "name": "Adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenal-insufficiency"
      },
      {
        "slug": "alopecia-universalis",
        "name": "Alopecia universalis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia-universalis"
      },
      {
        "slug": "anti-21-hydroxylase-antibody-positivity",
        "name": "Anti-21-hydroxylase antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-21-hydroxylase-antibody-positivity"
      },
      {
        "slug": "anti-endomysial-antibody-positivity",
        "name": "Anti-endomysial antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-endomysial-antibody-positivity"
      },
      {
        "slug": "anti-gad65-antibody",
        "name": "Anti-GAD65 antibody",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-gad65-antibody"
      },
      {
        "slug": "anti-reticulin-antibody-positivity",
        "name": "Anti-reticulin antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-reticulin-antibody-positivity"
      },
      {
        "slug": "anti-side-chain-cleavage-enzyme-antibody-positivity",
        "name": "Anti-side-chain cleavage enzyme antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anti-side-chain-cleavage-enzyme-antibody-positivity"
      },
      {
        "slug": "anti-thyroglobulin-antibody-positivity",
        "name": "Anti-thyroglobulin antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/anti-thyroid-peroxidase-antibody-positivity"
      },
      {
        "slug": "anti-thyroid-stimulating-hormone-receptor-antibody-positivity",
        "name": "Anti-thyroid-stimulating hormone receptor antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-thyroid-stimulating-hormone-receptor-antibody-positivity"
      },
      {
        "slug": "antiparietal-cell-antibody-positivity",
        "name": "Antiparietal cell antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/antiparietal-cell-antibody-positivity"
      },
      {
        "slug": "atrophic-gastritis",
        "name": "Atrophic gastritis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrophic-gastritis"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "vitiligo",
        "name": "Blotchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vitiligo"
      },
      {
        "slug": "celiac-disease",
        "name": "Celiac disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/celiac-disease"
      },
      {
        "slug": "chronic-active-hepatitis",
        "name": "Chronic active hepatitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-active-hepatitis"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "slug": "chronic-sinusitis",
        "name": "Chronic sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-sinusitis"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "corneal-ulceration",
        "name": "Corneal ulceration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-ulceration"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "decreased-circulating-parathyroid-hormone-level",
        "name": "Decreased circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "male-hypogonadism",
        "name": "Decreased function of male gonad",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/male-hypogonadism"
      },
      {
        "slug": "hypoparathyroidism",
        "name": "Decreased parathyroid hormone secretion",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoparathyroidism"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "premature-ovarian-insufficiency",
        "name": "Early menopause",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency"
      },
      {
        "slug": "ectodermal-dysplasia",
        "name": "Ectodermal dysplasia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ectodermal-dysplasia"
      },
      {
        "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration",
        "name": "Elevated circulating thyroid-stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration"
      },
      {
        "slug": "adrenal-hyperplasia",
        "name": "Enlarged adrenal glands",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/adrenal-hyperplasia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "female-hypogonadism",
        "name": "Female hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/female-hypogonadism"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "graves-disease",
        "name": "Graves disease",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/graves-disease"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hashimoto-thyroiditis",
        "name": "Hashimoto thyroiditis",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hashimoto-thyroiditis"
      },
      {
        "slug": "hypocalcemic-tetany",
        "name": "Hypocalcemic tetany",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypocalcemic-tetany"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "increased-circulating-cortisol-level",
        "name": "Increased circulating cortisol level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-cortisol-level"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "interstitial-pneumonitis",
        "name": "Interstitial pneumonitis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/interstitial-pneumonitis"
      },
      {
        "slug": "iridocyclitis",
        "name": "Iridocyclitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iridocyclitis"
      },
      {
        "slug": "keratoconjunctivitis",
        "name": "Keratoconjunctivitis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis"
      },
      {
        "slug": "nephritis",
        "name": "Kidney inflammation",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephritis"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "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-circulating-aldosterone-concentration",
        "name": "Low blood aldosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-aldosterone-concentration"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "nail-pits",
        "name": "Nail pits",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nail-pits"
      },
      {
        "slug": "nasal-polyposis",
        "name": "Nasal polyposis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nasal-polyposis"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "patchy-alopecia",
        "name": "Patchy baldness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patchy-alopecia"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "hypopigmented-skin-patches",
        "name": "Patchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypopigmented-skin-patches"
      },
      {
        "slug": "perifoveal-ring-of-hyperautofluorescence",
        "name": "Perifoveal ring of hyperautofluorescence",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/perifoveal-ring-of-hyperautofluorescence"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "primary-adrenal-insufficiency",
        "name": "Primary adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/primary-adrenal-insufficiency"
      },
      {
        "slug": "primary-testicular-failure",
        "name": "Primary testicular failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/primary-testicular-failure"
      },
      {
        "slug": "recurrent-fungal-infections",
        "name": "Recurrent fungal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-fungal-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-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": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "tympanosclerosis",
        "name": "Tympanosclerosis",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tympanosclerosis"
      },
      {
        "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": "hypoplastic-spleen",
        "name": "Underdeveloped spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-spleen"
      },
      {
        "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": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uveitis"
      },
      {
        "slug": "decreased-circulating-vitamin-b12-concentration",
        "name": "Vitamin B12 deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-b12-concentration"
      }
    ],
    "related": [
      {
        "slug": "atp2c1",
        "symbol": "ATP2C1",
        "name": "ATPase secretory pathway Ca2+ transporting 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atp2c1"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/c1qa"
      },
      {
        "slug": "casp10",
        "symbol": "CASP10",
        "name": "caspase 10",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/casp10"
      },
      {
        "slug": "casp8",
        "symbol": "CASP8",
        "name": "caspase 8",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/casp8"
      },
      {
        "slug": "casr",
        "symbol": "CASR",
        "name": "calcium sensing receptor",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/casr"
      },
      {
        "slug": "cblb",
        "symbol": "CBLB",
        "name": "Cbl proto-oncogene B",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cblb"
      },
      {
        "slug": "cdc73",
        "symbol": "CDC73",
        "name": "cell division cycle 73",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cdc73"
      },
      {
        "slug": "chrng",
        "symbol": "CHRNG",
        "name": "cholinergic receptor nicotinic gamma subunit",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/chrng"
      },
      {
        "slug": "ctla4",
        "symbol": "CTLA4",
        "name": "cytotoxic T-lymphocyte associated protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ctla4"
      },
      {
        "slug": "dnase1l3",
        "symbol": "DNASE1L3",
        "name": "deoxyribonuclease 1L3",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dnase1l3"
      },
      {
        "slug": "fas",
        "symbol": "FAS",
        "name": "Fas cell surface death receptor",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/fas"
      },
      {
        "slug": "faslg",
        "symbol": "FASLG",
        "name": "Fas ligand",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/faslg"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}