{ "url": "https://dantelabs.com/el/genes/rarb", "gene": { "slug": "rarb", "symbol": "RARB", "name": "retinoic acid receptor beta", "hgnc": "HGNC:9865", "summary": null, "location": "3p24.2", "locusType": "gene with protein product", "aliases": [ "HAP", "NR1B2", "RRB2", "RARbeta", "RAR-beta" ], "previousSymbols": [], "ensemblId": "ENSG00000077092", "entrezId": 5915, "omim": [ "180220" ], "uniprot": [ "P10826" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 25428263, "end": 25597932, "strand": "+", "ensemblTranscript": "ENST00000330688.9", "refseqTranscript": "NM_000965.5", "ensemblProtein": "ENSP00000332296.4", "refseqProtein": "NP_000956.2", "exons": [ { "start": 25428263, "end": 25428888 }, { "start": 25461193, "end": 25461341 }, { "start": 25501182, "end": 25501323 }, { "start": 25569758, "end": 25569918 }, { "start": 25580546, "end": 25580722 }, { "start": 25593503, "end": 25593707 }, { "start": 25594520, "end": 25594678 }, { "start": 25596420, "end": 25597932 } ], "cds": { "start": 25428732, "end": 25596616 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 25215823, "end": 25639423, "strand": "+" }, "neighbourhood": { "release": "116", "start": 25013098, "end": 26013097, "genes": [ { "symbol": "TOP2B", "ensemblId": "ENSG00000077097", "biotype": "protein_coding", "start": 25597978, "end": 25664973, "strand": "-", "slug": "top2b" }, { "symbol": "NGLY1", "ensemblId": "ENSG00000151092", "biotype": "protein_coding", "start": 25718698, "end": 25790039, "strand": "-", "slug": "ngly1" }, { "symbol": "OXSM", "ensemblId": "ENSG00000151093", "biotype": "protein_coding", "start": 25782917, "end": 25797141, "strand": "+", "slug": "oxsm" } ], "truncated": false }, "reports": [ { "slug": "microphthalmia-anophthalmia-coloboma", "name": "Μικροφθαλμία, Ανοφθαλμία και Κολοβωμα", "diseases": [ { "mondoId": "MONDO:0016073", "name": "Συνδρομική Μικροφθαλμία", "genes": 19, "inheritance": null, "description": "Μικροφθαλμία που εμφανίζεται μαζί με χαρακτηριστικά εκτός του οφθαλμού, οφειλόμενη σε μεταβολές σε γονίδια όπως τα SOX2, OTX2, BCOR, STRA6 και BMP4.", "management": "Μια γενετική διάγνωση καθοδηγεί τους ελέγχους για σχετιζόμενα χαρακτηριστικά, όπως προβλήματα της υπόφυσης σε περιπτώσεις μεταβολών στα SOX2 ή OTX2, και παρέχει πληροφορίες για τον κίνδυνο επανεμφάνισης.", "evidence": { "gencc": [ "Baylor College of Medicine Research Center", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/microphthalmia-anophthalmia-coloboma" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "anophthalmia", "name": "Absence of eyeballs", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/anophthalmia" }, { "slug": "broad-nasal-tip", "name": "Broad nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/broad-nasal-tip" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "congenital-diaphragmatic-hernia", "name": "Congenital diaphragmatic hernia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia" }, { "slug": "bicornuate-uterus", "name": "Heart shaped uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bicornuate-uterus" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "hypoplastic-left-atrium", "name": "Hypoplastic left atrium", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplastic-left-atrium" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "pulmonary-hypoplasia", "name": "Poorly developed lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pulmonary-hypoplasia" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/wide-nasal-bridge" } ], "related": [ { "slug": "bcor", "symbol": "BCOR", "name": "BCL6 corepressor", "shared": 1, "url": "https://dantelabs.com/el/genes/bcor" }, { "slug": "bmp4", "symbol": "BMP4", "name": "bone morphogenetic protein 4", "shared": 1, "url": "https://dantelabs.com/el/genes/bmp4" }, { "slug": "cox7b", "symbol": "COX7B", "name": "cytochrome c oxidase subunit 7B", "shared": 1, "url": "https://dantelabs.com/el/genes/cox7b" }, { "slug": "ercc1", "symbol": "ERCC1", "name": "ERCC excision repair 1, endonuclease non-catalytic subunit", "shared": 1, "url": "https://dantelabs.com/el/genes/ercc1" }, { "slug": "ercc2", "symbol": "ERCC2", "name": "ERCC excision repair 2, TFIIH core complex helicase subunit", "shared": 1, "url": "https://dantelabs.com/el/genes/ercc2" }, { "slug": "ercc5", "symbol": "ERCC5", "name": "ERCC excision repair 5, endonuclease", "shared": 1, "url": "https://dantelabs.com/el/genes/ercc5" }, { "slug": "fat1", "symbol": "FAT1", "name": "FAT atypical cadherin 1", "shared": 1, "url": "https://dantelabs.com/el/genes/fat1" }, { "slug": "hccs", "symbol": "HCCS", "name": "holocytochrome c synthase", "shared": 1, "url": "https://dantelabs.com/el/genes/hccs" }, { "slug": "hmx1", "symbol": "HMX1", "name": "H6 family homeobox 1", "shared": 1, "url": "https://dantelabs.com/el/genes/hmx1" }, { "slug": "mab21l2", "symbol": "MAB21L2", "name": "mab-21 like 2", "shared": 1, "url": "https://dantelabs.com/el/genes/mab21l2" }, { "slug": "ndufb11", "symbol": "NDUFB11", "name": "NADH:ubiquinone oxidoreductase subunit B11", "shared": 1, "url": "https://dantelabs.com/el/genes/ndufb11" }, { "slug": "otx2", "symbol": "OTX2", "name": "orthodenticle homeobox 2", "shared": 1, "url": "https://dantelabs.com/el/genes/otx2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }