{ "url": "https://dantelabs.com/lt/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": "Diabetas (Diabetes mellitus)", "genes": 31, "inheritance": null, "description": "Metabolinis sutrikimas, kuriam būdingas nenormaliai aukštas gliukozės kiekis kraujyje dėl sumažėjusios insulino gamybos arba insulino atsparumo / jautrumo sumažėjimo.", "management": "Teplizumabas (Tzield) 2 stadijos prasimptominiam 1 tipo diabetui (FDA patvirtintas 2022 m.); insulino pakaitinis gydymas, kai atsiranda klinikinių 1 tipo diabeto požymių; TrialNet autoantikūnų tyrimas didelės rizikos giminaičiams; uždaros grandinės insulino tiekimo sistemos", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/diabetes-mellitus" }, { "slug": "maturity-onset-diabetes-of-the-young", "name": "Subrandos jaunų suaugusiųjų diabetas (MODY)", "diseases": [ { "mondoId": "MONDO:0018911", "name": "Subrandos jaunų suaugusiųjų diabetas (MODY)", "genes": 12, "inheritance": "autosomal-dominant", "description": "MODY (subrandos jaunų suaugusiųjų diabetas) yra reta, paveldima, klinikiniu ir genetiniu požiūriu nevienalytė diabeto forma, pasireiškianti jaunam amžiui (paprastai 10–45 metų), išlaikoma endogeninė insulino gamyba, nėra kasos beta ląstelių autoimuniteto, nėra nutukimo ir insulino atsparumo, o kai kuriais pogrupiais – ir kasai nepriklausomų pasireiškimų.", "management": "GCK-MODY: gydyti nereikia; HNF1A/HNF4A-MODY: mažomis dozėmis sulfonilkarbamidai; HNF1B-MODY: insulinas ir inkstų stebėjimas; poligeninis 2 tipo diabetas: gyvensenos keitimas, metforminas, GLP-1 agonistai, SGLT2 inhibitoriai pagal kartu esančių ligų profilį", "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/lt/conditions/maturity-onset-diabetes-of-the-young" }, { "slug": "neonatal-diabetes-mellitus", "name": "Neonatinis cukrinis diabetas", "diseases": [ { "mondoId": "MONDO:0016391", "name": "Neonatinis cukrinis diabetas", "genes": 20, "inheritance": null, "description": "Cukrinis diabetas, diagnozuojamas pirmaisiais gyvenimo mėnesiais, gali būti nuolatinis arba laikinas, sukeltas vieno geno defektų, susijusių su insulino gamyba ar sekrecija.", "management": "Dauguma žmonių, sergančių KCNJ11 ar ABCC8 neonatiniu cukriniu diabetu, gali pereiti nuo insulino injekcijų prie sulfonilurėjos tablečių, dažnai su geresne gliukozės kontrole.", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/lt/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/lt/genes/abcc8" }, { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 3, "url": "https://dantelabs.com/lt/genes/gck" }, { "slug": "hnf1b", "symbol": "HNF1B", "name": "HNF1 homeobox B", "shared": 3, "url": "https://dantelabs.com/lt/genes/hnf1b" }, { "slug": "ins", "symbol": "INS", "name": "insulin", "shared": 3, "url": "https://dantelabs.com/lt/genes/ins" }, { "slug": "kcnj11", "symbol": "KCNJ11", "name": "potassium inwardly rectifying channel subfamily J member 11", "shared": 3, "url": "https://dantelabs.com/lt/genes/kcnj11" }, { "slug": "pdx1", "symbol": "PDX1", "name": "pancreatic and duodenal homeobox 1", "shared": 3, "url": "https://dantelabs.com/lt/genes/pdx1" }, { "slug": "appl1", "symbol": "APPL1", "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/appl1" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 2, "url": "https://dantelabs.com/lt/genes/bscl2" }, { "slug": "cel", "symbol": "CEL", "name": "carboxyl ester lipase", "shared": 2, "url": "https://dantelabs.com/lt/genes/cel" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/lt/genes/eif2b1" }, { "slug": "gata4", "symbol": "GATA4", "name": "GATA binding protein 4", "shared": 2, "url": "https://dantelabs.com/lt/genes/gata4" }, { "slug": "gata6", "symbol": "GATA6", "name": "GATA binding protein 6", "shared": 2, "url": "https://dantelabs.com/lt/genes/gata6" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }