{
  "url": "https://dantelabs.com/hu/genes/pdx1",
  "gene": {
    "slug": "pdx1",
    "symbol": "PDX1",
    "name": "pancreatic and duodenal homeobox 1",
    "hgnc": "HGNC:6107",
    "summary": null,
    "location": "13q12.2",
    "locusType": "gene with protein product",
    "aliases": [
      "IDX-1",
      "STF-1",
      "PDX-1",
      "MODY4",
      "GSF",
      "IUF-1"
    ],
    "previousSymbols": [
      "IPF1"
    ],
    "ensemblId": "ENSG00000139515",
    "entrezId": 3651,
    "omim": [
      "600733"
    ],
    "uniprot": [
      "P52945"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 27920000,
      "end": 27926313,
      "strand": "+",
      "ensemblTranscript": "ENST00000381033.5",
      "refseqTranscript": "NM_000209.4",
      "ensemblProtein": "ENSP00000370421.4",
      "refseqProtein": "NP_000200.1",
      "exons": [
        {
          "start": 27920000,
          "end": 27920544
        },
        {
          "start": 27924256,
          "end": 27926313
        }
      ],
      "cds": {
        "start": 27920139,
        "end": 27924701
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 28494157,
      "end": 28500368,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 27423157,
      "end": 28423156,
      "genes": [
        {
          "symbol": "GTF3A",
          "ensemblId": "ENSG00000122034",
          "biotype": "protein_coding",
          "start": 27424584,
          "end": 27435823,
          "strand": "+",
          "slug": "gtf3a"
        },
        {
          "symbol": "MTIF3",
          "ensemblId": "ENSG00000122033",
          "biotype": "protein_coding",
          "start": 27429823,
          "end": 27450613,
          "strand": "-",
          "slug": "mtif3"
        },
        {
          "symbol": "LNX2",
          "ensemblId": "ENSG00000139517",
          "biotype": "protein_coding",
          "start": 27545911,
          "end": 27621354,
          "strand": "-",
          "slug": "lnx2"
        },
        {
          "symbol": "POLR1D",
          "ensemblId": "ENSG00000186184",
          "biotype": "protein_coding",
          "start": 27620742,
          "end": 27744237,
          "strand": "+",
          "slug": "polr1d"
        },
        {
          "symbol": "GSX1",
          "ensemblId": "ENSG00000169840",
          "biotype": "protein_coding",
          "start": 27792483,
          "end": 27794768,
          "strand": "+",
          "slug": "gsx1"
        },
        {
          "symbol": "CDX2",
          "ensemblId": "ENSG00000165556",
          "biotype": "protein_coding",
          "start": 27959646,
          "end": 27975983,
          "strand": "-",
          "slug": "cdx2"
        },
        {
          "symbol": "URAD",
          "ensemblId": "ENSG00000183463",
          "biotype": "protein_coding",
          "start": 27977717,
          "end": 27988693,
          "strand": "-",
          "slug": "urad"
        },
        {
          "symbol": "FLT3",
          "ensemblId": "ENSG00000122025",
          "biotype": "protein_coding",
          "start": 28003274,
          "end": 28100592,
          "strand": "-",
          "slug": "flt3"
        },
        {
          "symbol": "PAN3",
          "ensemblId": "ENSG00000152520",
          "biotype": "protein_coding",
          "start": 28138193,
          "end": 28295335,
          "strand": "+",
          "slug": "pan3"
        },
        {
          "symbol": "FLT1",
          "ensemblId": "ENSG00000102755",
          "biotype": "protein_coding",
          "start": 28299540,
          "end": 28495288,
          "strand": "-",
          "slug": "flt1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes Mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.",
            "management": "Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/diabetes-mellitus"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Maturity-Onset Diabetes Of The Young",
        "diseases": [
          {
            "mondoId": "MONDO:0018911",
            "name": "Maturity-Onset Diabetes Of The Young",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.",
            "management": "GCK-MODY: no treatment needed; HNF1A/HNF4A-MODY: low-dose sulfonylureas; HNF1B-MODY: insulin + renal monitoring; T2D polygenic: lifestyle modification, metformin, GLP-1 agonists, SGLT2 inhibitors based on comorbidity profile",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Neonatal Diabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Neonatal diabetes mellitus",
            "genes": 20,
            "inheritance": null,
            "description": "Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.",
            "management": "Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/neonatal-diabetes-mellitus"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-c-peptide-concentration",
        "name": "Abnormal circulating C-peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-c-peptide-concentration"
      },
      {
        "slug": "abnormal-circulating-insulin-concentration",
        "name": "Abnormal circulating insulin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-insulin-concentration"
      },
      {
        "slug": "renal-tubular-dysfunction",
        "name": "Abnormal function of filtrating structures in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-tubular-dysfunction"
      },
      {
        "slug": "abnormal-oral-glucose-tolerance",
        "name": "Abnormal oral glucose tolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-oral-glucose-tolerance"
      },
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "abnormality-of-the-upper-urinary-tract",
        "name": "Abnormality of the upper urinary tract",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-upper-urinary-tract"
      },
      {
        "slug": "pancreatic-aplasia",
        "name": "Absent pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancreatic-aplasia"
      },
      {
        "slug": "apraxia",
        "name": "Apraxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apraxia"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autoimmune-antibody-positivity",
        "name": "Autoimmune antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity"
      },
      {
        "slug": "large-for-gestational-age",
        "name": "Birth weight > 90th percentile",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-for-gestational-age"
      },
      {
        "slug": "insulin-resistance",
        "name": "Body fails to respond to insulin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/insulin-resistance"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "decreased-circulating-c-peptide-concentration",
        "name": "Decreased circulating C-peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-c-peptide-concentration"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "hypovolemia",
        "name": "Depleted blood volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypovolemia"
      },
      {
        "slug": "diabetic-ketoacidosis",
        "name": "Diabetic ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/diabetic-ketoacidosis"
      },
      {
        "slug": "downturned-corners-of-mouth",
        "name": "Downturned corners of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downturned-corners-of-mouth"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-ptosis"
      },
      {
        "slug": "elevated-hemoglobin-a1c",
        "name": "Elevated hemoglobin A1c",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-hemoglobin-a1c"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-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": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hepatocellular-adenoma",
        "name": "Hepatocellular adenoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatocellular-adenoma"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "moderate-albuminuria",
        "name": "High urine albumin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/moderate-albuminuria"
      },
      {
        "slug": "hyperinsulinemic-hypoglycemia",
        "name": "Hyperinsulinemic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia"
      },
      {
        "slug": "hypoinsulinemia",
        "name": "Hypoinsulinemia",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoinsulinemia"
      },
      {
        "slug": "exocrine-pancreatic-insufficiency",
        "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "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": "insulin-resistant-diabetes-mellitus",
        "name": "Insulin resistant diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "neonatal-hypoglycemia",
        "name": "Low blood sugar in newborn",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-hypoglycemia"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "lower-limb-joint-contracture",
        "name": "Lower-limb joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-joint-contracture"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Maturity-onset diabetes of the young",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "neonatal-insulin-dependent-diabetes-mellitus",
        "name": "Neonatal insulin-dependent diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-insulin-dependent-diabetes-mellitus"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "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": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "overweight",
        "name": "Overweight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/overweight"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-metopic-ridge",
        "name": "Prominent metopic ridge",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-metopic-ridge"
      },
      {
        "slug": "reduced-pancreatic-beta-cells",
        "name": "Reduced pancreatic beta cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-pancreatic-beta-cells"
      },
      {
        "slug": "transient-neonatal-diabetes-mellitus",
        "name": "Transient neonatal diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transient-neonatal-diabetes-mellitus"
      },
      {
        "slug": "pancreatic-hypoplasia",
        "name": "Underdeveloped pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancreatic-hypoplasia"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/abcc8"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/gck"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/hnf1b"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/kcnj11"
      },
      {
        "slug": "neurod1",
        "symbol": "NEUROD1",
        "name": "neuronal differentiation 1",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/neurod1"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/bscl2"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cel"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/gata6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}