{
  "url": "https://dantelabs.com/fi/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": "Autosomaalinen dominantti tubulointerstitiaalinen munuaissairaus",
        "diseases": [
          {
            "mondoId": "MONDO:0000608",
            "name": "Perinnöllinen nuoruusiän hyperurikemiaan liittyvä nefropatia",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "Dominantisti periytyvä tubulointerstitiaalinen munuaissairaus, joka aiheutuu useimmiten UMOD-varianteista (ja myös REN- tai SEC61A1-varianteista). Siihen liittyvät kohonnut virtsahappo, varhainen kihti ja munuaisten toiminnan asteittainen heikkeneminen.",
            "management": "Tiedosta on hyötyä munuaisten toiminnan seurannassa, kihdin hoidossa ja siihen liittyvien elävien munuaisten luovuttajien huolellisessa arvioinnissa. REN-muodon hoitoon voi vastata fludrokortisoni.",
            "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/fi/conditions/autosomal-dominant-tubulointerstitial-kidney-disease"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "Metabolinen sairaus, jolle on ominaista poikkeuksellisen korkea verensokeri. Sen taustalla on insuliinin tuotannon väheneminen tai insuliiniresistenssi ja herkistymisen heikentyminen.",
            "management": "Teplizumabi (Tzield) vaiheen 2 oireettoman tyypin 1 diabeteksen hoitoon (FDA:n hyväksymä vuonna 2022); insuliinikorvaushoito kliinisen tyypin 1 diabeteksen alkaessa; TrialNet-vasta-aineseulonta suuren riskin sukulaisille; suljetun kierron insuliininantojärjestelmät",
            "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/fi/conditions/diabetes-mellitus"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Nuorten aikuisiän diabetes (MODY)",
        "diseases": [
          {
            "mondoId": "MONDO:0018911",
            "name": "Nuorten aikuisiän diabetes (MODY)",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "MODY (maturity-onset diabetes of the young) on harvinainen, suvussa esiintyvä diabetesmuoto, joka on kliinisesti ja geneettisesti heterogeeninen. Sille on ominaista nuori sairastumisikä (yleensä 10–45 vuotta), oman insuliinituotannon säilyminen, haimasolujen autoimmuniteetin puuttuminen, lihavuuden ja insuliiniresistenssin puuttuminen sekä joissakin alatyypeissä haimän ulkopuoliset oireet.",
            "management": "GCK-MODY: hoitoa ei yleensä tarvita; HNF1A/HNF4A-MODY: pieniannoksiset sulfonyyliureat; HNF1B-MODY: insuliini ja munuaisten seuranta; monigeeninen tyypin 2 diabetes: elintapamuutos, metformiini, GLP-1-agonistit tai SGLT2-estäjät sairauksien yhteisvaikutusten mukaan",
            "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/fi/conditions/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Vastasyntyneen diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Vastasyntyneen diabetes mellitus",
            "genes": 20,
            "inheritance": null,
            "description": "Diabetes, joka todetaan elämän ensimmäisinä kuukausina ja joka voi olla joko pysyvä tai ohimenevä. Sen aiheuttavat yhden geenin viat insuliinin tuotannossa tai erityksessä.",
            "management": "Useimmat KCNJ11- tai ABCC8-geenin aiheuttamaa vastasyntyneen diabetesta sairastavat voivat siirtyä insuliinipistoksista sulfonyyliureatabletteihin, ja verensokerin hallinta on usein parempaa.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/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/fi/genes/abcc8"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/gck"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/kcnj11"
      },
      {
        "slug": "neurod1",
        "symbol": "NEUROD1",
        "name": "neuronal differentiation 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/neurod1"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "name": "pancreatic and duodenal homeobox 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/pdx1"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/bscl2"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/cel"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/gata6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}