{ "url": "https://dantelabs.com/fr/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": "Diabète sucré", "diseases": [ { "mondoId": "MONDO:0005015", "name": "Diabète sucré", "genes": 31, "inheritance": null, "description": "Trouble métabolique caractérisé par une glycémie anormalement élevée, résultant d'une diminution de la production d'insuline ou d'une résistance/désensibilisation à l'insuline.", "management": "Teplizumab (Tzield) pour le DT1 présymptomatique de stade 2 (approuvé par la FDA en 2022) ; insulinothérapie substitutive dès le début clinique du DT1 ; dépistage des auto-anticorps TrialNet pour les proches à haut risque ; systèmes de délivrance d'insuline en boucle fermée", "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/fr/conditions/diabetes-mellitus" }, { "slug": "maturity-onset-diabetes-of-the-young", "name": "Diabète de type MODY (Maturity-Onset Diabetes of the Young)", "diseases": [ { "mondoId": "MONDO:0018911", "name": "Diabète de type MODY (Maturity-Onset Diabetes of the Young)", "genes": 12, "inheritance": "autosomal-dominant", "description": "Le diabète de type MODY (maturity-onset diabetes of the young) est une forme rare, familiale, cliniquement et génétiquement hétérogène de diabète, caractérisée par un début précoce (généralement entre 10 et 45 ans), le maintien d'une production endogène d'insuline, l'absence d'auto-immunité contre les cellules bêta pancréatiques, l'absence d'obésité et d'insulinorésistance, ainsi que par des manifestations extra-pancréatiques dans certains sous-types.", "management": "MODY-GCK : aucun traitement nécessaire ; MODY-HNF1A/HNF4A : sulfamides hypoglycémiants à faible dose ; MODY-HNF1B : insuline + surveillance rénale ; DT2 polygénique : modification des habitudes de vie, metformine, agonistes du GLP-1, inhibiteurs du SGLT2 selon le profil des comorbidités", "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/fr/conditions/maturity-onset-diabetes-of-the-young" }, { "slug": "neonatal-diabetes-mellitus", "name": "Diabète néonatal", "diseases": [ { "mondoId": "MONDO:0016391", "name": "Diabète néonatal", "genes": 20, "inheritance": null, "description": "Diabète diagnostiqué au cours des premiers mois de vie, permanent ou transitoire, causé par des anomalies d'un seul gène affectant la production ou la sécrétion d'insuline.", "management": "La plupart des personnes atteintes d'un diabète néonatal lié à KCNJ11 ou ABCC8 peuvent passer des injections d'insuline à des comprimés de sulfonylurées, souvent avec un meilleur contrôle de la glycémie.", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/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/fr/genes/abcc8" }, { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 3, "url": "https://dantelabs.com/fr/genes/gck" }, { "slug": "hnf1b", "symbol": "HNF1B", "name": "HNF1 homeobox B", "shared": 3, "url": "https://dantelabs.com/fr/genes/hnf1b" }, { "slug": "ins", "symbol": "INS", "name": "insulin", "shared": 3, "url": "https://dantelabs.com/fr/genes/ins" }, { "slug": "kcnj11", "symbol": "KCNJ11", "name": "potassium inwardly rectifying channel subfamily J member 11", "shared": 3, "url": "https://dantelabs.com/fr/genes/kcnj11" }, { "slug": "pdx1", "symbol": "PDX1", "name": "pancreatic and duodenal homeobox 1", "shared": 3, "url": "https://dantelabs.com/fr/genes/pdx1" }, { "slug": "appl1", "symbol": "APPL1", "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/appl1" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 2, "url": "https://dantelabs.com/fr/genes/bscl2" }, { "slug": "cel", "symbol": "CEL", "name": "carboxyl ester lipase", "shared": 2, "url": "https://dantelabs.com/fr/genes/cel" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/fr/genes/eif2b1" }, { "slug": "gata4", "symbol": "GATA4", "name": "GATA binding protein 4", "shared": 2, "url": "https://dantelabs.com/fr/genes/gata4" }, { "slug": "gata6", "symbol": "GATA6", "name": "GATA binding protein 6", "shared": 2, "url": "https://dantelabs.com/fr/genes/gata6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }