{
  "url": "https://dantelabs.com/el/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": "Αυτοσωμικά Επικρατή Τubulointerstitial Νεφρική Νόσος",
        "diseases": [
          {
            "mondoId": "MONDO:0000608",
            "name": "Οικογενής Νεφροπάθεια με Υπερουριχαιμία σε Νεανική Ηλικία",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "Μια κληρονομούμενη με επικρατή τρόπο tubulointerstitial νεφρική νόσος, συχνότερα προκαλούμενη από παραλλαγές του UMOD (και επίσης του REN ή του SEC61A1), με υψηλό ουρικό οξύ, πρώιμη ουρική αρθρίτιδα και σταδιακή απώλεια της νεφρικής λειτουργίας.",
            "management": "Η γνώση της κατάστασης υποστηρίζει την παρακολούθηση της νεφρικής λειτουργίας, τη θεραπεία της ουρικής αρθρίτιδας και την προσεκτική εκτίμηση των συγγενών ζώντων δοτών νεφρού· η μορφή με REN ενδέχεται να ανταποκριθεί στη φλουδροκορτιζόνη.",
            "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/el/conditions/autosomal-dominant-tubulointerstitial-kidney-disease"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Σακχαρώδης διαβήτης",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Σακχαρώδης διαβήτης",
            "genes": 31,
            "inheritance": null,
            "description": "Μεταβολική διαταραχή που χαρακτηρίζεται από παθολογικά υψηλά επίπεδα σακχάρου στο αίμα, λόγω μειωμένης παραγωγής ινσουλίνης ή αντίστασης/απευαισθητοποίησης στην ινσουλίνη.",
            "management": "Teplizumab (Tzield) για προσυμπτωματικό διαβήτη τύπου 1 σταδίου 2 (έγκριση FDA το 2022)· υποκατάσταση ινσουλίνης κατά την κλινική έναρξη διαβήτη τύπου 1· έλεγχος για αυτοαντισώματα στο πλαίσιο του TrialNet για συγγενείς υψηλού κινδύνου· συστήματα χορήγησης ινσουλίνης κλειστού βρόχου",
            "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/el/conditions/diabetes-mellitus"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Διαβήτης Ώριμης Ηλικίας Νεανικής Εμφάνισης (MODY)",
        "diseases": [
          {
            "mondoId": "MONDO:0018911",
            "name": "Διαβήτης Ώριμης Ηλικίας Νεανικής Εμφάνισης",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Ο διαβήτης MODY (maturity-onset diabetes of the young) είναι μια σπάνια, οικογενειακή, κλινικά και γενετικά ετερογενής μορφή διαβήτη, που χαρακτηρίζεται από έναρξη σε νεαρή ηλικία (γενικά 10–45 ετών) με διατήρηση της ενδογενούς παραγωγής ινσουλίνης, απουσία αυτοάνοσης βλάβης των β-κυττάρων του παγκρέατος, απουσία παχυσαρκίας και αντίστασης στην ινσουλίνη, καθώς και εξωπαγκρεατικών εκδηλώσεων σε ορισμένους υποτύπους.",
            "management": "GCK-MODY: δεν απαιτείται θεραπεία· HNF1A/HNF4A-MODY: σουλφονυλουρίες χαμηλής δόσης· HNF1B-MODY: ινσουλίνη και παρακολούθηση νεφρικής λειτουργίας· πολυγονιδιακός T2D: τροποποίηση του τρόπου ζωής, μετφορμίνη, αγωνιστές GLP-1, αναστολείς SGLT2, ανάλογα με το προφίλ συννοσηρότητας",
            "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/el/conditions/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Νεογνικός Σακχαρώδης Διαβήτης",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Νεογνικός σακχαρώδης διαβήτης",
            "genes": 20,
            "inheritance": null,
            "description": "Διαβήτης που διαγιγνώσκεται κατά τους πρώτους μήνες της ζωής, μόνιμος ή παροδικός, που οφείλεται σε μονογονιδιακές διαταραχές της παραγωγής ή της έκκρισης ινσουλίνης.",
            "management": "Τα περισσότερα άτομα με νεογνικό διαβήτη λόγω KCNJ11 ή ABCC8 μπορούν να μεταβούν από τις ενέσεις ινσουλίνης σε δισκία σουλφονυλουρίας, συχνά με καλύτερο έλεγχο της γλυκόζης.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/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/el/genes/abcc8"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/gck"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/kcnj11"
      },
      {
        "slug": "neurod1",
        "symbol": "NEUROD1",
        "name": "neuronal differentiation 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/neurod1"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "name": "pancreatic and duodenal homeobox 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/pdx1"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/bscl2"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/cel"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/gata6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}