{ "url": "https://dantelabs.com/de/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": "Eine Stoffwechselstörung, die durch ungewöhnlich hohe Blutzuckerwerte infolge einer verminderten Insulinproduktion oder einer Insulinresistenz bzw. verminderten Insulinsensitivität gekennzeichnet ist.", "management": "Teplizumab (Tzield) bei präsymptomatischem T1D im Stadium 2 (FDA-Zulassung 2022); Insulinsubstitution bei klinischer Manifestation von T1D; TrialNet-Autoantikörper-Screening für Verwandte mit hohem Risiko; Closed-Loop-Insulinabgabesysteme", "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/de/conditions/diabetes-mellitus" }, { "slug": "maturity-onset-diabetes-of-the-young", "name": "Maturity-Onset Diabetes of the Young (MODY)", "diseases": [ { "mondoId": "MONDO:0018911", "name": "Maturity-Onset Diabetes of the Young (MODY)", "genes": 12, "inheritance": "autosomal-dominant", "description": "MODY (Maturity-Onset Diabetes of the Young) ist eine seltene, familiär gehäufte, klinisch und genetisch heterogene Form des Diabetes. Typisch sind ein früher Beginn (meist im Alter von 10 bis 45 Jahren), eine erhaltene körpereigene Insulinproduktion, das Fehlen von Autoantikörpern gegen pankreatische Betazellen, das Ausbleiben von Adipositas und Insulinresistenz sowie bei einigen Subtypen Manifestationen außerhalb der Bauchspeicheldrüse.", "management": "GCK-MODY: keine Behandlung erforderlich; HNF1A/HNF4A-MODY: niedrig dosierte Sulfonylharnstoffe; HNF1B-MODY: Insulin + Nierenüberwachung; polygener T2D: Lebensstiländerung, Metformin, GLP-1-Agonisten, SGLT2-Inhibitoren je nach Komorbiditätsprofil", "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/de/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, der in den ersten Lebensmonaten diagnostiziert wird, entweder dauerhaft oder vorübergehend, verursacht durch Defekte einzelner Gene bei der Insulinbildung oder -sekretion.", "management": "Die meisten Menschen mit neonataler Diabetes aufgrund von KCNJ11- oder ABCC8-Varianten können von Insulininjektionen auf Sulfonylharnstoff-Tabletten umstellen, oft mit besserer Blutzuckereinstellung.", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/de/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/de/genes/abcc8" }, { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 3, "url": "https://dantelabs.com/de/genes/gck" }, { "slug": "hnf1b", "symbol": "HNF1B", "name": "HNF1 homeobox B", "shared": 3, "url": "https://dantelabs.com/de/genes/hnf1b" }, { "slug": "ins", "symbol": "INS", "name": "insulin", "shared": 3, "url": "https://dantelabs.com/de/genes/ins" }, { "slug": "kcnj11", "symbol": "KCNJ11", "name": "potassium inwardly rectifying channel subfamily J member 11", "shared": 3, "url": "https://dantelabs.com/de/genes/kcnj11" }, { "slug": "pdx1", "symbol": "PDX1", "name": "pancreatic and duodenal homeobox 1", "shared": 3, "url": "https://dantelabs.com/de/genes/pdx1" }, { "slug": "appl1", "symbol": "APPL1", "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1", "shared": 2, "url": "https://dantelabs.com/de/genes/appl1" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 2, "url": "https://dantelabs.com/de/genes/bscl2" }, { "slug": "cel", "symbol": "CEL", "name": "carboxyl ester lipase", "shared": 2, "url": "https://dantelabs.com/de/genes/cel" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/de/genes/eif2b1" }, { "slug": "gata4", "symbol": "GATA4", "name": "GATA binding protein 4", "shared": 2, "url": "https://dantelabs.com/de/genes/gata4" }, { "slug": "gata6", "symbol": "GATA6", "name": "GATA binding protein 6", "shared": 2, "url": "https://dantelabs.com/de/genes/gata6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }