{
  "url": "https://dantelabs.com/nl/genes/neurod1",
  "gene": {
    "slug": "neurod1",
    "symbol": "NEUROD1",
    "name": "neuronal differentiation 1",
    "hgnc": "HGNC:7762",
    "summary": null,
    "location": "2q31.3",
    "locusType": "gene with protein product",
    "aliases": [
      "BETA2",
      "BHF-1",
      "NeuroD",
      "bHLHa3",
      "MODY6"
    ],
    "previousSymbols": [
      "NEUROD"
    ],
    "ensemblId": "ENSG00000162992",
    "entrezId": 4760,
    "omim": [
      "601724"
    ],
    "uniprot": [
      "Q13562"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 181676467,
      "end": 181680517,
      "strand": "-",
      "ensemblTranscript": "ENST00000295108.4",
      "refseqTranscript": "NM_002500.5",
      "ensemblProtein": "ENSP00000295108.3",
      "refseqProtein": "NP_002491.3",
      "exons": [
        {
          "start": 181676467,
          "end": 181678871
        },
        {
          "start": 181680430,
          "end": 181680517
        }
      ],
      "cds": {
        "start": 181677790,
        "end": 181678860
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 182537815,
      "end": 182545603,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 181178492,
      "end": 182178491,
      "genes": [
        {
          "symbol": "ITGA4",
          "ensemblId": "ENSG00000115232",
          "biotype": "protein_coding",
          "start": 181457014,
          "end": 181538940,
          "strand": "+",
          "slug": "itga4"
        },
        {
          "symbol": "CERKL",
          "ensemblId": "ENSG00000188452",
          "biotype": "protein_coding",
          "start": 181535041,
          "end": 181680665,
          "strand": "-",
          "slug": "cerkl"
        },
        {
          "symbol": "ITPRID2",
          "ensemblId": "ENSG00000138434",
          "biotype": "protein_coding",
          "start": 181841292,
          "end": 181930738,
          "strand": "+",
          "slug": "itprid2"
        },
        {
          "symbol": "PPP1R1C",
          "ensemblId": "ENSG00000150722",
          "biotype": "protein_coding",
          "start": 181954241,
          "end": 182131398,
          "strand": "+",
          "slug": "ppp1r1c"
        },
        {
          "symbol": "PDE1A",
          "ensemblId": "ENSG00000115252",
          "biotype": "protein_coding",
          "start": 182139968,
          "end": 182523359,
          "strand": "-",
          "slug": "pde1a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "Een stofwisselingsstoornis die wordt gekenmerkt door abnormaal hoge bloedsuikerspiegels als gevolg van verminderde insulineproductie of insulineresistentie/-ongevoeligheid.",
            "management": "Teplizumab (Tzield) voor presymptomatisch T1D in stadium 2 (door de FDA goedgekeurd in 2022); insulinevervanging bij klinisch begin van T1D; TrialNet-screening op autoantilichamen bij risicovolle familieleden; closed-loop-systemen voor insulinetoediening",
            "evidence": {
              "gencc": [
                "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/nl/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 een zeldzame, familiaire en klinisch en genetisch heterogene vorm van diabetes, gekenmerkt door een jonge leeftijd bij het begin (meestal tussen 10 en 45 jaar), met behoud van de eigen insulineproductie, geen bètacelautoimmuniteit in de alvleesklier, geen obesitas en geen insulineresistentie, en bij sommige subtypes extrapancreatische verschijnselen.",
            "management": "GCK-MODY: geen behandeling nodig; HNF1A/HNF4A-MODY: sulfonylureumderivaten in lage dosis; HNF1B-MODY: insuline en monitoring van de nierfunctie; T2D polygeen: leefstijlaanpassing, metformine, GLP-1-receptoragonisten en SGLT2-remmers, afhankelijk van het profiel van bijkomende aandoeningen",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Neonatale diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Neonatale diabetes mellitus",
            "genes": 20,
            "inheritance": null,
            "description": "Diabetes die in de eerste maanden van het leven wordt vastgesteld, blijvend of tijdelijk, veroorzaakt door defecten in één gen die de aanmaak of afgifte van insuline verstoren.",
            "management": "De meeste mensen met neonatale diabetes door KCNJ11- of ABCC8-varianten kunnen overstappen van insulineinjecties naar sulfonylureumtabletten, vaak met een betere glucoseregulatie.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/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": "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": "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": "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": "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": "diabetic-ketoacidosis",
        "name": "Diabetic ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/diabetic-ketoacidosis"
      },
      {
        "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": "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": "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": "frequent",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "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": "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": "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": "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": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "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": "very-rare",
        "url": "https://dantelabs.com/traits/pancreatic-hypoplasia"
      }
    ],
    "related": [
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/abcc8"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/gck"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/hnf1b"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/kcnj11"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "name": "pancreatic and duodenal homeobox 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pdx1"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/bscl2"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/cel"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/gata6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}