{ "url": "https://dantelabs.com/fr/genes/triobp", "gene": { "slug": "triobp", "symbol": "TRIOBP", "name": "TRIO and F-actin binding protein", "hgnc": "HGNC:17009", "summary": null, "location": "22q13.1", "locusType": "gene with protein product", "aliases": [ "HRIHFB2122", "KIAA1662", "Tara", "TAP68" ], "previousSymbols": [ "DFNB28" ], "ensemblId": "ENSG00000100106", "entrezId": 11078, "omim": [ "609761" ], "uniprot": [ "Q9H2D6" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 37697048, "end": 37776556, "strand": "+", "ensemblTranscript": "ENST00000644935.1", "refseqTranscript": "NM_001039141.3", "ensemblProtein": "ENSP00000496394.1", "refseqProtein": "NP_001034230.1", "exons": [ { "start": 37697048, "end": 37697089 }, { "start": 37697588, "end": 37697696 }, { "start": 37701306, "end": 37701479 }, { "start": 37710427, "end": 37710566 }, { "start": 37713210, "end": 37713411 }, { "start": 37715763, "end": 37715934 }, { "start": 37723185, "end": 37726503 }, { 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"end": 37726503, "strand": "+" }, { "symbol": "H1-0", "ensemblId": "ENSG00000189060", "biotype": "protein_coding", "start": 37805229, "end": 37807432, "strand": "+", "slug": "h1-0" }, { "symbol": "GCAT", "ensemblId": "ENSG00000100116", "biotype": "protein_coding", "start": 37807872, "end": 37817386, "strand": "+", "slug": "gcat" }, { "symbol": "GALR3", "ensemblId": "ENSG00000128310", "biotype": "protein_coding", "start": 37822198, "end": 37825851, "strand": "+", "slug": "galr3" }, { "symbol": "ANKRD54", "ensemblId": "ENSG00000100124", "biotype": "protein_coding", "start": 37830853, "end": 37849327, "strand": "-", "slug": "ankrd54" }, { "symbol": "EIF3L", "ensemblId": "ENSG00000100129", "biotype": "protein_coding", "start": 37848868, "end": 37889407, "strand": "+", "slug": "eif3l" }, { "symbol": "MICALL1", "ensemblId": "ENSG00000100139", "biotype": "protein_coding", "start": 37905657, "end": 37942822, "strand": "+", "slug": "micall1" }, { "symbol": "C22orf23", "ensemblId": "ENSG00000128346", "biotype": "protein_coding", "start": 37943050, "end": 37953669, "strand": "-", "slug": "c22orf23" }, { "symbol": "POLR2F", "ensemblId": "ENSG00000100142", "biotype": "protein_coding", "start": 37952607, "end": 38041932, "strand": "+", "slug": "polr2f" }, { "symbol": "SOX10", "ensemblId": "ENSG00000100146", "biotype": "protein_coding", "start": 37970686, "end": 37987422, "strand": "-", "slug": "sox10" }, { "symbol": "PICK1", "ensemblId": "ENSG00000100151", "biotype": "protein_coding", "start": 38056311, "end": 38076050, "strand": "+", "slug": "pick1" }, { "symbol": "SLC16A8", "ensemblId": "ENSG00000100156", "biotype": "protein_coding", "start": 38078134, "end": 38084186, "strand": "-", "slug": "slc16a8" }, { "symbol": "BAIAP2L2", "ensemblId": "ENSG00000128298", "biotype": "protein_coding", "start": 38084652, "end": 38111015, "strand": "-", "slug": "baiap2l2" }, { "symbol": "PLA2G6", "ensemblId": "ENSG00000184381", "biotype": "protein_coding", "start": 38111495, "end": 38214778, "strand": "-", "slug": "pla2g6" }, { "symbol": "MAFF", "ensemblId": "ENSG00000185022", "biotype": "protein_coding", "start": 38200767, "end": 38219321, "strand": "+", "slug": "maff" }, { "symbol": "TMEM184B", "ensemblId": "ENSG00000198792", "biotype": "protein_coding", "start": 38215914, "end": 38273805, "strand": "-", "slug": "tmem184b" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Perte auditive et surdité", "diseases": [ { "mondoId": "MONDO:0019497", "name": "Surdité génétique non syndromique", "genes": 97, "inheritance": null, "description": "Surdité héréditaire sans autres signes médicaux associés, y compris les formes récessives fréquentes causées par GJB2, OTOF, SLC26A4, STRC et de nombreux autres gènes, ainsi que les formes dominantes, liées à l'X et mitochondriales.", "management": "Connaître la cause génétique peut orienter la prise en charge auditive et les décisions concernant l'implant cochléaire, l'éligibilité à des essais de thérapie génique (par exemple pour OTOF) et le conseil génétique familial.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "severe-sensorineural-hearing-impairment", "name": "Severe sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/severe-sensorineural-hearing-impairment" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/actg1" }, { "slug": "afg2b", "symbol": "AFG2B", "name": "AAA ATPase AFG2B", "shared": 1, "url": "https://dantelabs.com/fr/genes/afg2b" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/aifm1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/fr/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/atp2b2" }, { "slug": "cabp2", "symbol": "CABP2", "name": "calcium binding protein 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/cabp2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 1, "url": "https://dantelabs.com/fr/genes/cd164" }, { "slug": "cdc14a", "symbol": "CDC14A", "name": "cell division cycle 14A", "shared": 1, "url": "https://dantelabs.com/fr/genes/cdc14a" }, { "slug": "cdh23", "symbol": "CDH23", "name": "cadherin related 23", "shared": 1, "url": "https://dantelabs.com/fr/genes/cdh23" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 1, "url": "https://dantelabs.com/fr/genes/ceacam16" }, { "slug": "cib2", "symbol": "CIB2", "name": "calcium and integrin binding family member 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/cib2" }, { "slug": "cldn14", "symbol": "CLDN14", "name": "claudin 14", "shared": 1, "url": "https://dantelabs.com/fr/genes/cldn14" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }