{
  "url": "https://dantelabs.com/tr/genes/hnf1b",
  "gene": {
    "slug": "hnf1b",
    "symbol": "HNF1B",
    "name": "HNF1 homeobox B",
    "hgnc": "HGNC:11630",
    "summary": null,
    "location": "17q12",
    "locusType": "gene with protein product",
    "aliases": [
      "LFB3",
      "VHNF1",
      "HNF1beta",
      "MODY5",
      "HNF1β"
    ],
    "previousSymbols": [
      "TCF2"
    ],
    "ensemblId": "ENSG00000275410",
    "entrezId": 6928,
    "omim": [
      "189907"
    ],
    "uniprot": [
      "P35680"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 37686431,
      "end": 37745059,
      "strand": "-",
      "ensemblTranscript": "ENST00000617811.5",
      "refseqTranscript": "NM_000458.4",
      "ensemblProtein": "ENSP00000480291.1",
      "refseqProtein": "NP_000449.1",
      "exons": [
        {
          "start": 37686431,
          "end": 37687392
        },
        {
          "start": 37699076,
          "end": 37699194
        },
        {
          "start": 37700983,
          "end": 37701177
        },
        {
          "start": 37704917,
          "end": 37705049
        },
        {
          "start": 37710503,
          "end": 37710663
        },
        {
          "start": 37731595,
          "end": 37731830
        },
        {
          "start": 37733557,
          "end": 37733821
        },
        {
          "start": 37739440,
          "end": 37739639
        },
        {
          "start": 37744541,
          "end": 37745059
        }
      ],
      "cds": {
        "start": 37687372,
        "end": 37744884
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 36046435,
      "end": 36105237,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 37215745,
      "end": 38215744,
      "genes": [
        {
          "symbol": "ACACA",
          "ensemblId": "ENSG00000278540",
          "biotype": "protein_coding",
          "start": 37084992,
          "end": 37406853,
          "strand": "-",
          "slug": "acaca"
        },
        {
          "symbol": "C17orf78",
          "ensemblId": "ENSG00000278505",
          "biotype": "protein_coding",
          "start": 37375985,
          "end": 37392708,
          "strand": "+",
          "slug": "c17orf78"
        },
        {
          "symbol": "TADA2A",
          "ensemblId": "ENSG00000276234",
          "biotype": "protein_coding",
          "start": 37406731,
          "end": 37479807,
          "strand": "+",
          "slug": "tada2a"
        },
        {
          "symbol": "DUSP14",
          "ensemblId": "ENSG00000276023",
          "biotype": "protein_coding",
          "start": 37488397,
          "end": 37513832,
          "strand": "+",
          "slug": "dusp14"
        },
        {
          "symbol": "SYNRG",
          "ensemblId": "ENSG00000275066",
          "biotype": "protein_coding",
          "start": 37514795,
          "end": 37609490,
          "strand": "-",
          "slug": "synrg"
        },
        {
          "symbol": "DDX52",
          "ensemblId": "ENSG00000278053",
          "biotype": "protein_coding",
          "start": 37609739,
          "end": 37643530,
          "strand": "-",
          "slug": "ddx52"
        },
        {
          "symbol": "TBC1D3K",
          "ensemblId": "ENSG00000273513",
          "biotype": "protein_coding",
          "start": 37924415,
          "end": 37935371,
          "strand": "+",
          "slug": "tbc1d3k"
        },
        {
          "symbol": "TBC1D3L",
          "ensemblId": "ENSG00000274512",
          "biotype": "protein_coding",
          "start": 37978154,
          "end": 37989389,
          "strand": "-",
          "slug": "tbc1d3l"
        },
        {
          "symbol": "TBC1D3D",
          "ensemblId": "ENSG00000274419",
          "biotype": "protein_coding",
          "start": 38003976,
          "end": 38014908,
          "strand": "+",
          "slug": "tbc1d3d"
        },
        {
          "symbol": "TBC1D3C",
          "ensemblId": "ENSG00000278299",
          "biotype": "protein_coding",
          "start": 38057693,
          "end": 38068634,
          "strand": "-",
          "slug": "tbc1d3c"
        },
        {
          "symbol": "TBC1D3E",
          "ensemblId": "ENSG00000278599",
          "biotype": "protein_coding",
          "start": 38127951,
          "end": 38138868,
          "strand": "+",
          "slug": "tbc1d3e"
        },
        {
          "symbol": "TBC1D3",
          "ensemblId": "ENSG00000274611",
          "biotype": "protein_coding",
          "start": 38181659,
          "end": 38194017,
          "strand": "-",
          "slug": "tbc1d3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-dominant-tubulointerstitial-kidney-disease",
        "name": "Otozomal Dominant Tübulointerstisyel Böbrek Hastalığı",
        "diseases": [
          {
            "mondoId": "MONDO:0000608",
            "name": "Ailesel Juvenil Hiperürisemik Nefropati",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "En sık UMOD varyantlarına (ayrıca REN veya SEC61A1'e) bağlı, dominant kalıtılan bir tübulointerstisyel böbrek hastalığıdır; yüksek ürik asit, erken başlangıçlı gut ve böbrek fonksiyonunda kademeli kayıpla seyreder.",
            "management": "Bu bilgi, böbrek fonksiyonunun izlenmesine, gut tedavisine ve ilgili canlı böbrek vericilerinin dikkatli değerlendirilmesine destek olur; REN formu fludrokortizon tedavisine yanıt verebilir.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/autosomal-dominant-tubulointerstitial-kidney-disease"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes Mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "Insülin üretiminin azalması veya insülin direnci/duyarsızlaşması nedeniyle anormal derecede yüksek kan şekeri düzeyleriyle karakterize metabolik bir bozukluk.",
            "management": "Evre 2 semptom öncesi T1D için teplizumab (Tzield) (FDA onayı 2022); klinik T1D başlangıcında insülin replasmanı; yüksek riskli yakınlar için TrialNet otoantikor taraması; kapalı döngü insülin uygulama sistemleri",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/diabetes-mellitus"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Genç Erişkinlerde Başlangıçlı Diyabet (MODY)",
        "diseases": [
          {
            "mondoId": "MONDO:0018911",
            "name": "Genç Erişkinlerde Başlangıçlı Diyabet (MODY)",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "MODY (genç erişkinlerde başlangıçlı diyabet), genellikle 10-45 yaş arasında başlayan, endojen insülin üretiminin sürdüğü, pankreas beta hücrelerine yönelik otoimmünite bulunmayan, obezite ve insülin direnci görülmeyen ve bazı alt tiplerde pankreas dışı belirtiler de gösterebilen, nadir, ailesel, klinik ve genetik açıdan heterojen bir diyabet türüdür.",
            "management": "GCK-MODY: tedavi gerektirmez; HNF1A/HNF4A-MODY: düşük doz sülfonilüreler; HNF1B-MODY: insülin ve böbrek takibi; poligenik T2D: yaşam tarzı değişikliği, metformin, GLP-1 agonistleri ve SGLT2 inhibitörleri, eşlik eden hastalık profiline göre",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Neonatal Diyabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Neonatal diyabetes mellitus",
            "genes": 20,
            "inheritance": null,
            "description": "Yaşamın ilk aylarında teşhis edilen, kalıcı veya geçici olabilen diyabettir; insülin üretimi veya salgılanmasındaki tek genli bozukluklardan kaynaklanır.",
            "management": "KCNJ11 veya ABCC8 ile ilişkili neonatal diyabeti olan kişilerin çoğu, insülin enjeksiyonlarından sülfonilüre tabletlerine geçebilir; bu geçiş çoğu zaman kan şekeri kontrolünde daha iyi sonuçlarla birlikte gelir.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/neonatal-diabetes-mellitus"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ectopic-kidney",
        "name": "Abnormal kidney location",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ectopic-kidney"
      },
      {
        "slug": "abnormality-of-alkaline-phosphatase-level",
        "name": "Abnormality of alkaline phosphatase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-alkaline-phosphatase-level"
      },
      {
        "slug": "abnormality-of-endocrine-pancreas-physiology",
        "name": "Abnormality of endocrine pancreas physiology",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-endocrine-pancreas-physiology"
      },
      {
        "slug": "abnormality-of-exocrine-pancreas-physiology",
        "name": "Abnormality of exocrine pancreas physiology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-exocrine-pancreas-physiology"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "abnormality-of-the-genital-system",
        "name": "Abnormality of the reproductive system",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genital-system"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-rib-morphology"
      },
      {
        "slug": "abnormal-renal-morphology",
        "name": "Abnormally shaped kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-renal-morphology"
      },
      {
        "slug": "renal-agenesis",
        "name": "Absent kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-agenesis"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "pancreatic-aplasia",
        "name": "Absent pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-aplasia"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "absent-vas-deferens",
        "name": "Absent vas deferens",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-vas-deferens"
      },
      {
        "slug": "renal-hypoplasia-aplasia",
        "name": "Absent/small kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-hypoplasia-aplasia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-pancreas",
        "name": "Absent/small pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-pancreas"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-uterus",
        "name": "Absent/small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uterus"
      },
      {
        "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": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "hemihypertrophy",
        "name": "Asymmetric overgrowth",
        "systems": [
          "abnormality-of-limbs",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemihypertrophy"
      },
      {
        "slug": "atretic-vas-deferens",
        "name": "Atretic vas deferens",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/atretic-vas-deferens"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "biliary-tract-abnormality",
        "name": "Biliary tract abnormality",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/biliary-tract-abnormality"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "insulin-resistance",
        "name": "Body fails to respond to insulin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/insulin-resistance"
      },
      {
        "slug": "renal-cell-carcinoma",
        "name": "Cancer starting in small tubes in kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-cell-carcinoma"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-numbers-of-nephrons",
        "name": "Decreased numbers of nephrons",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-numbers-of-nephrons"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "distal-renal-tubular-acidosis",
        "name": "Distal renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-renal-tubular-acidosis"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "epididymal-cyst",
        "name": "Epididymal cyst",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/epididymal-cyst"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glomerulopathy",
        "name": "Glomerulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glomerulopathy"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "bicornuate-uterus",
        "name": "Heart shaped uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bicornuate-uterus"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "horseshoe-kidney",
        "name": "Horseshoe kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/horseshoe-kidney"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "impaired-glucose-tolerance",
        "name": "Impaired glucose tolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/impaired-glucose-tolerance"
      },
      {
        "slug": "exocrine-pancreatic-insufficiency",
        "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency"
      },
      {
        "slug": "increased-waist-to-hip-ratio",
        "name": "Increased waist to hip ratio",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/increased-waist-to-hip-ratio"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "language-impairment",
        "name": "Language impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/language-impairment"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Maturity-onset diabetes of the young",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "multiple-glomerular-cysts",
        "name": "Multiple glomerular cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-glomerular-cysts"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "pancreatic-atrophy",
        "name": "Pancreatic atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancreatic-atrophy"
      },
      {
        "slug": "papillary-cystadenoma-of-the-epididymis",
        "name": "Papillary cystadenoma of the epididymis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/papillary-cystadenoma-of-the-epididymis"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "reduced-sperm-motility",
        "name": "Reduced sperm motility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-sperm-motility"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "renal-fanconi-syndrome",
        "name": "Renal Fanconi syndrome",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-fanconi-syndrome"
      },
      {
        "slug": "shawl-scrotum",
        "name": "Scrotum surrounds penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shawl-scrotum"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "hypoplasia-of-the-uterus",
        "name": "Small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-uterus"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "subcortical-cerebral-atrophy",
        "name": "Subcortical cerebral atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subcortical-cerebral-atrophy"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "pancreatic-hypoplasia",
        "name": "Underdeveloped pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pancreatic-hypoplasia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "ureterocele",
        "name": "Ureterocele",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ureterocele"
      },
      {
        "slug": "ureteropelvic-junction-obstruction",
        "name": "Ureteropelvic junction obstruction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ureteropelvic-junction-obstruction"
      },
      {
        "slug": "vertebral-segmentation-defect",
        "name": "Vertebral segmentation defect",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertebral-segmentation-defect"
      },
      {
        "slug": "large-fontanelles",
        "name": "Wide fontanelles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-fontanelles"
      }
    ],
    "related": [
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/abcc8"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/gck"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/kcnj11"
      },
      {
        "slug": "neurod1",
        "symbol": "NEUROD1",
        "name": "neuronal differentiation 1",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/neurod1"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "name": "pancreatic and duodenal homeobox 1",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/pdx1"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/bscl2"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/cel"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/gata6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}