{ "url": "https://dantelabs.com/ro/genes/neurog3", "gene": { "slug": "neurog3", "symbol": "NEUROG3", "name": "neurogenin 3", "hgnc": "HGNC:13806", "summary": null, "location": "10q22.1", "locusType": "gene with protein product", "aliases": [ "Atoh5", "Math4B", "ngn3", "bHLHa7" ], "previousSymbols": [], "ensemblId": "ENSG00000122859", "entrezId": 50674, "omim": [ "604882" ], "uniprot": [ "Q9Y4Z2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 69571698, "end": 69573422, "strand": "-", "ensemblTranscript": "ENST00000242462.5", "refseqTranscript": "NM_020999.4", "ensemblProtein": "ENSP00000242462.4", "refseqProtein": "NP_066279.2", "exons": [ { "start": 69571698, "end": 69573044 }, { "start": 69573210, "end": 69573422 } ], "cds": { "start": 69572399, "end": 69573043 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 71331454, "end": 71332994, "strand": "-" }, "neighbourhood": { "release": "116", "start": 69072560, "end": 70072559, "genes": [ { "symbol": "SRGN", "ensemblId": "ENSG00000122862", "biotype": "protein_coding", "start": 69087579, "end": 69105696, "strand": "+", "slug": "srgn" }, { "symbol": "VPS26A", "ensemblId": "ENSG00000122958", "biotype": "protein_coding", "start": 69123512, "end": 69174412, "strand": "+", "slug": "vps26a" }, { "symbol": "SUPV3L1", "ensemblId": "ENSG00000156502", "biotype": "protein_coding", "start": 69180234, "end": 69209108, "strand": "+", "slug": "supv3l1" }, { "symbol": "HKDC1", "ensemblId": "ENSG00000156510", "biotype": "protein_coding", "start": 69220292, "end": 69267569, "strand": "+", "slug": "hkdc1" }, { "symbol": "HK1", "ensemblId": "ENSG00000156515", "biotype": "protein_coding", "start": 69269984, "end": 69403497, "strand": "+", "slug": "hk1" }, { "symbol": "TACR2", "ensemblId": "ENSG00000075073", "biotype": "protein_coding", "start": 69402885, "end": 69416923, "strand": "-", "slug": "tacr2" }, { "symbol": "TSPAN15", "ensemblId": "ENSG00000099282", "biotype": "protein_coding", "start": 69451150, "end": 69507676, "strand": "+", "slug": "tspan15" }, { "symbol": "FAM241B", "ensemblId": "ENSG00000171224", "biotype": "protein_coding", "start": 69630228, "end": 69633614, "strand": "+", "slug": "fam241b" }, { "symbol": "COL13A1", "ensemblId": "ENSG00000197467", "biotype": "protein_coding", "start": 69801875, "end": 69964275, "strand": "+", "slug": "col13a1" }, { "symbol": "MACROH2A2", "ensemblId": "ENSG00000099284", "biotype": "protein_coding", "start": 70052544, "end": 70112282, "strand": "+", "slug": "macroh2a2" }, { "symbol": "AIFM2", "ensemblId": "ENSG00000042286", "biotype": "protein_coding", "start": 70054661, "end": 70133269, "strand": "-", "slug": "aifm2" } ], "truncated": false }, "reports": [ { "slug": "congenital-diarrhoeas-and-enteropathies", "name": "Diareea congenitală și enteropatiile", "diseases": [ { "mondoId": "MONDO:0000824", "name": "Diareea congenitală", "genes": 12, "inheritance": null, "description": "Afecțiuni ereditare, inclusiv diareea congenitală cu clor (SLC26A3), boala cu incluziuni microvilare (MYO5B), enteropatia cu aspect de smoc (EPCAM) și diareea congenitală cu sodiu (SPINT2, SLC9A3), care provoacă diaree cronică încă din primele luni de viață.", "management": "Un diagnostic specific orientează tratamentul, cum ar fi înlocuirea electroliților în cazul diareei cu clor, sau planificarea timpurie a nutriției parenterale ori a transplantului intestinal în cazul bolii cu incluziuni microvilare și al enteropatiei cu aspect de smoc.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/congenital-diarrhoeas-and-enteropathies" }, { "slug": "diabetes-mellitus", "name": "Diabet zaharat", "diseases": [ { "mondoId": "MONDO:0005015", "name": "Diabet zaharat", "genes": 31, "inheritance": null, "description": "Tulburare metabolică caracterizată prin valori anormal de ridicate ale glicemiei, din cauza producției reduse de insulină sau a rezistenței/desensibilizării la insulină.", "management": "Teplizumab (Tzield) pentru DZ1 presimptomatic în stadiul 2 (aprobat de FDA în 2022); substituție cu insulină la debutul clinic al DZ1; screening pentru autoanticorpi în cadrul TrialNet la rudele cu risc crescut; sisteme de administrare a insulinei în buclă închisă", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/diabetes-mellitus" }, { "slug": "neonatal-diabetes-mellitus", "name": "Diabetul zaharat neonatal", "diseases": [ { "mondoId": "MONDO:0016391", "name": "Diabetul zaharat neonatal", "genes": 20, "inheritance": null, "description": "Diabet diagnosticat în primele luni de viață, permanent sau tranzitoriu, cauzat de defecte ale unei singure gene care afectează producția sau secreția de insulină.", "management": "Majoritatea persoanelor cu diabet neonatal asociat cu KCNJ11 sau ABCC8 pot trece de la injecțiile cu insulină la comprimatele de sulfoniluree, adesea cu un control mai bun al glicemiei.", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/neonatal-diabetes-mellitus" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cellular-phenotype", "name": "Abnormal cellular phenotype", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cellular-phenotype" }, { "slug": "abnormality-of-the-liver", "name": "Abnormality of the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormality-of-the-liver" }, { "slug": "cholestatic-liver-disease", "name": "Cholestatic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cholestatic-liver-disease" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "enteric-anendocrinosis", "name": "Enteric anendocrinosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/enteric-anendocrinosis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fat-malabsorption", "name": "Fat malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fat-malabsorption" }, { "slug": "cholelithiasis", "name": "Gallstones", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cholelithiasis" }, { "slug": "hyperglycemia", "name": "High blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperglycemia" }, { "slug": "hyperchloremic-metabolic-acidosis", "name": "Hyperchloremic metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperchloremic-metabolic-acidosis" }, { "slug": "increased-stool-alpha1-antitrypsin-concentration", "name": "Increased stool alpha1-antitrypsin concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-stool-alpha1-antitrypsin-concentration" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "tetany", "name": "Intermittent involuntary muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tetany" }, { "slug": "intractable-diarrhea", "name": "Intractable diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intractable-diarrhea" }, { "slug": "hepatitis", "name": "Liver inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatitis" }, { "slug": "macrovesicular-hepatic-steatosis", "name": "Macrovesicular hepatic steatosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrovesicular-hepatic-steatosis" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "microvesicular-hepatic-steatosis", "name": "Microvesicular hepatic steatosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microvesicular-hepatic-steatosis" }, { "slug": "portal-hypertension", "name": "Portal hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/portal-hypertension" }, { "slug": "type-i-diabetes-mellitus", "name": "Type 1 diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "rickets", "name": "Weak and soft bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rickets" } ], "related": [ { "slug": "abcc8", "symbol": "ABCC8", "name": "ATP binding cassette subfamily C member 8", "shared": 2, "url": "https://dantelabs.com/ro/genes/abcc8" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 2, "url": "https://dantelabs.com/ro/genes/bscl2" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/ro/genes/eif2b1" }, { "slug": "gata4", "symbol": "GATA4", "name": "GATA binding protein 4", "shared": 2, "url": "https://dantelabs.com/ro/genes/gata4" }, { "slug": "gata6", "symbol": "GATA6", "name": "GATA binding protein 6", "shared": 2, "url": "https://dantelabs.com/ro/genes/gata6" }, { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 2, "url": "https://dantelabs.com/ro/genes/gck" }, { "slug": "glis3", "symbol": "GLIS3", "name": "GLIS family zinc finger 3", "shared": 2, "url": "https://dantelabs.com/ro/genes/glis3" }, { "slug": "hnf1b", "symbol": "HNF1B", "name": "HNF1 homeobox B", "shared": 2, "url": "https://dantelabs.com/ro/genes/hnf1b" }, { "slug": "il2ra", "symbol": "IL2RA", "name": "interleukin 2 receptor subunit alpha", "shared": 2, "url": "https://dantelabs.com/ro/genes/il2ra" }, { "slug": "ins", "symbol": "INS", "name": "insulin", "shared": 2, "url": "https://dantelabs.com/ro/genes/ins" }, { "slug": "kcnj11", "symbol": "KCNJ11", "name": "potassium inwardly rectifying channel subfamily J member 11", "shared": 2, "url": "https://dantelabs.com/ro/genes/kcnj11" }, { "slug": "mnx1", "symbol": "MNX1", "name": "motor neuron and pancreas homeobox 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/mnx1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }