{
  "url": "https://dantelabs.com/el/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": "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": [
                "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/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": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "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-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/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/el/genes/abcc8"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/gck"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/hnf1b"
      },
      {
        "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": "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": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}