{
  "url": "https://dantelabs.com/sv/genes/gck",
  "gene": {
    "slug": "gck",
    "symbol": "GCK",
    "name": "glucokinase",
    "hgnc": "HGNC:4195",
    "summary": null,
    "location": "7p13",
    "locusType": "gene with protein product",
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      "HKIV"
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    "previousSymbols": [
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      "138079"
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    "uniprot": [
      "P35557"
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      "release": "v1.5",
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      "strand": "-",
      "ensemblTranscript": "ENST00000403799.8",
      "refseqTranscript": "NM_000162.5",
      "ensemblProtein": "ENSP00000384247.3",
      "refseqProtein": "NP_000153.1",
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      ],
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    },
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      "build": "GRCh37",
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      "chrom": "7",
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      "end": 44237769,
      "strand": "-"
    },
    "neighbourhood": {
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          "symbol": "COA1",
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        {
          "symbol": "BLVRA",
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          "strand": "+",
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        {
          "symbol": "MRPS24",
          "ensemblId": "ENSG00000062582",
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        {
          "symbol": "URGCP-MRPS24",
          "ensemblId": "ENSG00000270617",
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          "slug": "urgcp-mrps24"
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        {
          "symbol": "URGCP",
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        {
          "symbol": "UBE2D4",
          "ensemblId": "ENSG00000078967",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ube2d4"
        },
        {
          "symbol": "SPDYE1",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "DBNL",
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          "biotype": "protein_coding",
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          "end": 44069456,
          "strand": "+",
          "slug": "dbnl"
        },
        {
          "symbol": "PGAM2",
          "ensemblId": "ENSG00000164708",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "pgam2"
        },
        {
          "symbol": "POLM",
          "ensemblId": "ENSG00000122678",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "polm"
        },
        {
          "symbol": "AEBP1",
          "ensemblId": "ENSG00000106624",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "aebp1"
        },
        {
          "symbol": "POLD2",
          "ensemblId": "ENSG00000106628",
          "biotype": "protein_coding",
          "start": 44114631,
          "end": 44124407,
          "strand": "-",
          "slug": "pold2"
        },
        {
          "symbol": "MYL7",
          "ensemblId": "ENSG00000106631",
          "biotype": "protein_coding",
          "start": 44138857,
          "end": 44143179,
          "strand": "-",
          "slug": "myl7"
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        {
          "symbol": "YKT6",
          "ensemblId": "ENSG00000106636",
          "biotype": "protein_coding",
          "start": 44200959,
          "end": 44214294,
          "strand": "+",
          "slug": "ykt6"
        },
        {
          "symbol": "CAMK2B",
          "ensemblId": "ENSG00000058404",
          "biotype": "protein_coding",
          "start": 44209993,
          "end": 44334577,
          "strand": "-",
          "slug": "camk2b"
        },
        {
          "symbol": "NUDCD3",
          "ensemblId": "ENSG00000015676",
          "biotype": "protein_coding",
          "start": 44379119,
          "end": 44490919,
          "strand": "-",
          "slug": "nudcd3"
        },
        {
          "symbol": "NPC1L1",
          "ensemblId": "ENSG00000015520",
          "biotype": "protein_coding",
          "start": 44512442,
          "end": 44541330,
          "strand": "-",
          "slug": "npc1l1"
        },
        {
          "symbol": "DDX56",
          "ensemblId": "ENSG00000136271",
          "biotype": "protein_coding",
          "start": 44565416,
          "end": 44575388,
          "strand": "-",
          "slug": "ddx56"
        },
        {
          "symbol": "TMED4",
          "ensemblId": "ENSG00000158604",
          "biotype": "protein_coding",
          "start": 44576392,
          "end": 44582309,
          "strand": "-",
          "slug": "tmed4"
        },
        {
          "symbol": "OGDH",
          "ensemblId": "ENSG00000105953",
          "biotype": "protein_coding",
          "start": 44606496,
          "end": 44710116,
          "strand": "+",
          "slug": "ogdh"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "En ämnesomsättningsrubbning som kännetecknas av onormalt höga blodsockernivåer på grund av minskad insulinproduktion eller insulinresistens/desensibilisering.",
            "management": "Teplizumab (Tzield) vid presymptomatisk typ 1-diabetes steg 2 (FDA-godkänd 2022); insulinersättning vid klinisk debut av typ 1-diabetes; TrialNet-screening för autoantikroppar hos släktingar med hög risk; slutna system för automatisk insulinleverans",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/diabetes-mellitus"
      },
      {
        "slug": "hyperinsulinism",
        "name": "Hyperinsulinism",
        "diseases": [
          {
            "mondoId": "MONDO:0007834",
            "name": "Islet Cell Adenomatosis",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "En sporadisk eller ärftlig sjukdom som kännetecknas av fokal eller diffus proliferation av cellerna i Langerhans öar i bukspottkörteln. Den leder till hyperinsulinemi och hypoglykemi.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0002177",
            "name": "Hyperinsulinism",
            "genes": 9,
            "inheritance": null,
            "description": "Onormalt höga nivåer av insulin i blodet.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hyperinsulinism"
      },
      {
        "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) är en sällsynt, familjärt förekommande, klinisk och genetiskt heterogen form av diabetes. Den kännetecknas av debut vid ung ålder (generellt 10–45 år) med bibehållen egen insulinproduktion, avsaknad av autoimmunitet mot betaceller i bukspottkörteln, ingen fetma och ingen insulinresistens samt, vid vissa undertyper, manifestationer utanför bukspottkörteln.",
            "management": "GCK-MODY: ingen behandling behövs; HNF1A/HNF4A-MODY: sulfonylureider i låg dos; HNF1B-MODY: insulin + njuruppföljning; T2D polygen: livsstilsförändring, metformin, GLP-1-agonister och SGLT2-hämmare utifrån profilen av samsjuklighet",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/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 som upptäcks under de första månaderna av livet, antingen permanent eller övergående, orsakad av defekter i en enskild gen som påverkar insulinproduktion eller insulinutsöndring.",
            "management": "De flesta med neonatal diabetes orsakad av KCNJ11 eller ABCC8 kan byta från insulininjektioner till sulfonylureatabletter, ofta med bättre blodsockerkontroll.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/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": "very-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-nervous-system-physiology",
        "name": "Abnormal nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-physiology"
      },
      {
        "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-autonomic-nervous-system",
        "name": "Abnormality of the autonomic nervous system",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-autonomic-nervous-system"
      },
      {
        "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": "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": "hypoglycemic-coma",
        "name": "Coma caused by low blood sugar",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemic-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"
        ],
        "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": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "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": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "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": "hand-tremor",
        "name": "Hand tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hand-tremor"
      },
      {
        "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": "fasting-hyperinsulinemia",
        "name": "High blood insulin levels while fasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fasting-hyperinsulinemia"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia"
      },
      {
        "slug": "hypoglycemic-seizures",
        "name": "Hypoglycemic seizures",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoglycemic-seizures"
      },
      {
        "slug": "hypoinsulinemia",
        "name": "Hypoinsulinemia",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoinsulinemia"
      },
      {
        "slug": "hypoketotic-hypoglycemia",
        "name": "Hypoketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoketotic-hypoglycemia"
      },
      {
        "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-rare",
        "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": "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"
        ],
        "frequency": "obligate",
        "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": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neonatal-insulin-dependent-diabetes-mellitus",
        "name": "Neonatal insulin-dependent diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "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"
        ],
        "frequency": "occasional",
        "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": "recurrent-hypoglycemia",
        "name": "Recurrent low blood sugar levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-hypoglycemia"
      },
      {
        "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": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "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": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "pancreatic-hypoplasia",
        "name": "Underdeveloped pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "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": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 5,
        "url": "https://dantelabs.com/sv/genes/kcnj11"
      },
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 4,
        "url": "https://dantelabs.com/sv/genes/abcc8"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/hnf1b"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ins"
      },
      {
        "slug": "neurod1",
        "symbol": "NEUROD1",
        "name": "neuronal differentiation 1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/neurod1"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "name": "pancreatic and duodenal homeobox 1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/pdx1"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/bscl2"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/cel"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/gata6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 385,
    "url": "https://dantelabs.com/genes/gck/variants",
    "items": [
      {
        "slug": "a53v",
        "name": "A53V",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44153351,
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        },
        "url": "https://dantelabs.com/genes/gck/variants/a53v"
      },
      {
        "slug": "a188t",
        "name": "A188T",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44149986,
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        "part": {
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        },
        "url": "https://dantelabs.com/genes/gck/variants/a188t"
      },
      {
        "slug": "a201s",
        "name": "A201S",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44149838,
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        },
        "url": "https://dantelabs.com/genes/gck/variants/a201s"
      },
      {
        "slug": "a208p",
        "name": "A208P",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44149817,
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        "url": "https://dantelabs.com/genes/gck/variants/a208p"
      },
      {
        "slug": "a208t",
        "name": "A208T",
        "commonName": null,
        "symbol": "GCK",
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        "url": "https://dantelabs.com/genes/gck/variants/a208t"
      },
      {
        "slug": "a208v",
        "name": "A208V",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44149816,
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          "number": 6
        },
        "url": "https://dantelabs.com/genes/gck/variants/a208v"
      },
      {
        "slug": "a259s",
        "name": "A259S",
        "commonName": null,
        "symbol": "GCK",
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        "hgvsC": "c.775G>T",
        "position": 44147738,
        "grch37Position": 44187337,
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          "number": 7
        },
        "url": "https://dantelabs.com/genes/gck/variants/a259s"
      },
      {
        "slug": "a259t",
        "name": "A259T",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44147738,
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          "number": 7
        },
        "url": "https://dantelabs.com/genes/gck/variants/a259t"
      },
      {
        "slug": "a259v",
        "name": "A259V",
        "commonName": null,
        "symbol": "GCK",
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        "part": {
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        },
        "url": "https://dantelabs.com/genes/gck/variants/a259v"
      },
      {
        "slug": "a378cfs80",
        "name": "A378Cfs*80",
        "commonName": null,
        "symbol": "GCK",
        "classification": "likely-pathogenic",
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        "hgvsC": "c.1132_1133del",
        "position": 44145616,
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          "number": 9
        },
        "url": "https://dantelabs.com/genes/gck/variants/a378cfs80"
      },
      {
        "slug": "a378d",
        "name": "A378D",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44145617,
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        },
        "url": "https://dantelabs.com/genes/gck/variants/a378d"
      },
      {
        "slug": "a378g",
        "name": "A378G",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44145617,
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        },
        "url": "https://dantelabs.com/genes/gck/variants/a378g"
      },
      {
        "slug": "a378gfs75",
        "name": "A378Gfs*75",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44145600,
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        },
        "url": "https://dantelabs.com/genes/gck/variants/a378gfs75"
      },
      {
        "slug": "a378p",
        "name": "A378P",
        "commonName": null,
        "symbol": "GCK",
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        "position": 44145618,
        "grch37Position": 44185217,
        "part": {
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          "number": 9
        },
        "url": "https://dantelabs.com/genes/gck/variants/a378p"
      },
      {
        "slug": "a378t",
        "name": "A378T",
        "commonName": null,
        "symbol": "GCK",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1132G>A",
        "position": 44145618,
        "grch37Position": 44185217,
        "part": {
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          "number": 9
        },
        "url": "https://dantelabs.com/genes/gck/variants/a378t"
      },
      {
        "slug": "a378v",
        "name": "A378V",
        "commonName": null,
        "symbol": "GCK",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1133C>T",
        "position": 44145617,
        "grch37Position": 44185216,
        "part": {
          "kind": "exon",
          "number": 9
        },
        "url": "https://dantelabs.com/genes/gck/variants/a378v"
      },
      {
        "slug": "a379e",
        "name": "A379E",
        "commonName": null,
        "symbol": "GCK",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1136C>A",
        "position": 44145614,
        "grch37Position": 44185213,
        "part": {
          "kind": "exon",
          "number": 9
        },
        "url": "https://dantelabs.com/genes/gck/variants/a379e"
      },
      {
        "slug": "a379g",
        "name": "A379G",
        "commonName": null,
        "symbol": "GCK",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1136C>G",
        "position": 44145614,
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