{ "url": "https://dantelabs.com/el/genes/tubb1", "gene": { "slug": "tubb1", "symbol": "TUBB1", "name": "tubulin beta 1 class VI", "hgnc": "HGNC:16257", "summary": null, "location": "20q13.32", "locusType": "gene with protein product", "aliases": [ "dJ543J19.4" ], "previousSymbols": [], "ensemblId": "ENSG00000101162", "entrezId": 81027, "omim": [ "612901" ], "uniprot": [ "Q9H4B7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 59019429, "end": 59026654, "strand": "+", "ensemblTranscript": "ENST00000217133.2", "refseqTranscript": "NM_030773.4", "ensemblProtein": "ENSP00000217133.1", "refseqProtein": "NP_110400.1", "exons": [ { "start": 59019429, "end": 59019579 }, { "start": 59022845, "end": 59022953 }, { "start": 59023490, "end": 59023600 }, { "start": 59023705, "end": 59026654 } ], "cds": { "start": 59019523, "end": 59024783 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 57594309, "end": 57601709, "strand": "+" }, "neighbourhood": { "release": "116", "start": 58523042, "end": 59523041, "genes": [ { "symbol": "STX16", "ensemblId": "ENSG00000124222", "biotype": "protein_coding", "start": 58650262, "end": 58679526, "strand": "+", "slug": "stx16" }, { "symbol": "STX16-NPEPL1", "ensemblId": "ENSG00000254995", "biotype": "protein_coding", "start": 58651434, "end": 58715410, "strand": "+", "slug": "stx16-npepl1" }, { "symbol": "NPEPL1", "ensemblId": "ENSG00000215440", "biotype": "protein_coding", "start": 58689125, "end": 58719238, "strand": "+", "slug": "npepl1" }, { "symbol": "GNAS", "ensemblId": "ENSG00000087460", "biotype": "protein_coding", "start": 58839669, "end": 58911192, "strand": "+", "slug": "gnas" }, { "symbol": "NELFCD", "ensemblId": "ENSG00000101158", "biotype": "protein_coding", "start": 58981203, "end": 58997184, "strand": "+", "slug": "nelfcd" }, { "symbol": "CTSZ", "ensemblId": "ENSG00000101160", "biotype": "protein_coding", "start": 58985686, "end": 59008238, "strand": "-", "slug": "ctsz" }, { "symbol": "ATP5F1E", "ensemblId": "ENSG00000124172", "biotype": "protein_coding", "start": 59025475, "end": 59032363, "strand": "-", "slug": "atp5f1e" }, { "symbol": "PRELID3B", "ensemblId": "ENSG00000101166", "biotype": "protein_coding", "start": 59033092, "end": 59042897, "strand": "-", "slug": "prelid3b" }, { "symbol": "ZNF831", "ensemblId": "ENSG00000124203", "biotype": "protein_coding", "start": 59123381, "end": 59259113, "strand": "+", "slug": "znf831" }, { "symbol": "EDN3", "ensemblId": "ENSG00000124205", "biotype": "protein_coding", "start": 59300213, "end": 59325992, "strand": "+", "slug": "edn3" } ], "truncated": false }, "reports": [ { "slug": "inherited-thrombocytopenias", "name": "Κληρονομικές θρομβοκυτταροπενίες", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Κληρονομική θρομβοκυτταροπενία", "genes": 33, "inheritance": null, "description": "Μια ομάδα παθήσεων που προκαλούν χαμηλό αριθμό αιμοπεταλίων για όλη τη ζωή, συνδεδεμένες με γονίδια όπως τα MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 και MECOM, και κληρονομούνται με επικρατή, υπολειπόμενο ή συνδεδεμένο με το X χρωμόσωμα τρόπο.", "management": "Μια γενετική διάγνωση αποτρέπει τη λανθασμένη διάγνωση ως ανοσολογική θρομβοκυτταροπενία, με περιττές κορτικοστεροειδείς θεραπείες ή αφαίρεση του σπληνός, και καθοδηγεί την παρακολούθηση για σχετικά προβλήματα των νεφρών, της ακοής ή του αίματος.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "metrorrhagia", "name": "Abnormal uterus bleeding", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metrorrhagia" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "increased-mean-platelet-volume", "name": "Large platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-mean-platelet-volume" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "macrothrombocytopenia", "name": "Macrothrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrothrombocytopenia" }, { "slug": "platelet-anisocytosis", "name": "Platelet anisocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/platelet-anisocytosis" }, { "slug": "prolonged-bleeding-after-dental-extraction", "name": "Prolonged bleeding after dental extraction", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction" }, { "slug": "prolonged-bleeding-after-surgery", "name": "Prolonged bleeding after surgery", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-surgery" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/el/genes/actb" }, { "slug": "actn1", "symbol": "ACTN1", "name": "actinin alpha 1", "shared": 1, "url": "https://dantelabs.com/el/genes/actn1" }, { "slug": "adamts13", "symbol": "ADAMTS13", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13", "shared": 1, "url": "https://dantelabs.com/el/genes/adamts13" }, { "slug": "ankrd26", "symbol": "ANKRD26", "name": "ankyrin repeat domain 26", "shared": 1, "url": "https://dantelabs.com/el/genes/ankrd26" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/el/genes/arpc1b" }, { "slug": "cdc42", "symbol": "CDC42", "name": "cell division cycle 42", "shared": 1, "url": "https://dantelabs.com/el/genes/cdc42" }, { "slug": "cycs", "symbol": "CYCS", "name": "cytochrome c, somatic", "shared": 1, "url": "https://dantelabs.com/el/genes/cycs" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 1, "url": "https://dantelabs.com/el/genes/diaph1" }, { "slug": "etv6", "symbol": "ETV6", "name": "ETS variant transcription factor 6", "shared": 1, "url": "https://dantelabs.com/el/genes/etv6" }, { "slug": "fli1", "symbol": "FLI1", "name": "Fli-1 proto-oncogene, ETS transcription factor", "shared": 1, "url": "https://dantelabs.com/el/genes/fli1" }, { "slug": "fyb1", "symbol": "FYB1", "name": "FYN binding protein 1", "shared": 1, "url": "https://dantelabs.com/el/genes/fyb1" }, { "slug": "gale", "symbol": "GALE", "name": "UDP-galactose-4-epimerase", "shared": 1, "url": "https://dantelabs.com/el/genes/gale" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }