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"protein_coding", "start": 26173071, "end": 26196434, "strand": "+", "slug": "garem2" }, { "symbol": "HADHA", "ensemblId": "ENSG00000084754", "biotype": "protein_coding", "start": 26189833, "end": 26245044, "strand": "-", "slug": "hadha" }, { "symbol": "HADHB", "ensemblId": "ENSG00000138029", "biotype": "protein_coding", "start": 26243170, "end": 26290473, "strand": "+", "slug": "hadhb" }, { "symbol": "ADGRF3", "ensemblId": "ENSG00000173567", "biotype": "protein_coding", "start": 26308173, "end": 26346817, "strand": "-", "slug": "adgrf3" }, { "symbol": "SELENOI", "ensemblId": "ENSG00000138018", "biotype": "protein_coding", "start": 26308547, "end": 26395885, "strand": "+", "slug": "selenoi" }, { "symbol": "DRC1", "ensemblId": "ENSG00000157856", "biotype": "protein_coding", "start": 26401908, "end": 26456717, "strand": "+", "slug": "drc1" }, { "symbol": "CIMIP2C", "ensemblId": "ENSG00000173557", "biotype": "protein_coding", "start": 26562542, "end": 26581178, "strand": "+", "slug": "cimip2c" }, { "symbol": "CIB4", "ensemblId": "ENSG00000157884", "biotype": "protein_coding", "start": 26579428, "end": 26641366, "strand": "-", "slug": "cib4" }, { "symbol": "KCNK3", "ensemblId": "ENSG00000171303", "biotype": "protein_coding", "start": 26692713, "end": 26733420, "strand": "+", "slug": "kcnk3" }, { "symbol": "SLC35F6", "ensemblId": "ENSG00000213699", "biotype": "protein_coding", "start": 26764240, "end": 26781231, "strand": "+", "slug": "slc35f6" }, { "symbol": "CENPA", "ensemblId": "ENSG00000115163", "biotype": "protein_coding", "start": 26764289, "end": 26801067, "strand": "+", "slug": "cenpa" }, { "symbol": "DPYSL5", "ensemblId": "ENSG00000157851", "biotype": "protein_coding", "start": 26847747, "end": 26950351, "strand": "+", "slug": "dpysl5" }, { "symbol": "MAPRE3", "ensemblId": "ENSG00000084764", "biotype": "protein_coding", "start": 26970400, "end": 27027219, "strand": "+", "slug": "mapre3" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Gehoorverlies en doofheid", "diseases": [ { "mondoId": "MONDO:0021944", "name": "Auditieve neuropathie", "genes": 3, "inheritance": null, "description": "Gehoorverlies waarbij het binnenoor geluid waarneemt, maar het signaal niet normaal wordt doorgegeven aan de gehoorzenuw, inclusief erfelijke vormen veroorzaakt door OTOF en andere genen.", "management": "Het vaststellen van de oorzaak kan invloed hebben op de keuze tussen hoortoestellen en cochleaire implantaten, en vormen die met OTOF samenhangen, zijn onderwerp van onderzoeken naar genetherapie.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Niet-syndromale erfelijke gehoorstoornis", "genes": 97, "inheritance": null, "description": "Erfelijk gehoorverlies zonder andere medische kenmerken, inclusief de veelvoorkomende recessieve vormen veroorzaakt door GJB2, OTOF, SLC26A4, STRC en vele andere genen, evenals dominante, X-gebonden en mitochondriale vormen.", "management": "Het kennen van de genetische oorzaak kan helpen bij keuzes rond gehoorondersteuning en cochleaire implantaten, bij de geschiktheid voor deelname aan onderzoeken naar genetherapie (bijvoorbeeld bij OTOF) en bij erfelijkheidsadvies voor familieleden.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "absence-of-acoustic-reflex", "name": "Absence of acoustic reflex", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/absence-of-acoustic-reflex" }, { "slug": "absent-brainstem-auditory-responses", "name": "Absent brainstem auditory responses", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/absent-brainstem-auditory-responses" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" } ], "related": [ { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/aifm1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/nl/genes/atp11a" }, { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/actg1" }, { "slug": "afg2b", "symbol": "AFG2B", "name": "AAA ATPase AFG2B", "shared": 1, "url": "https://dantelabs.com/nl/genes/afg2b" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/atp2b2" }, { "slug": "cabp2", "symbol": "CABP2", "name": "calcium binding protein 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/cabp2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 1, "url": "https://dantelabs.com/nl/genes/cd164" }, { "slug": "cdc14a", "symbol": "CDC14A", "name": "cell division cycle 14A", "shared": 1, "url": "https://dantelabs.com/nl/genes/cdc14a" }, { "slug": "cdh23", "symbol": "CDH23", "name": "cadherin related 23", "shared": 1, "url": "https://dantelabs.com/nl/genes/cdh23" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 1, "url": "https://dantelabs.com/nl/genes/ceacam16" }, { "slug": "cib2", "symbol": "CIB2", "name": "calcium and integrin binding family member 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/cib2" }, { "slug": "cldn14", "symbol": "CLDN14", "name": "claudin 14", "shared": 1, "url": "https://dantelabs.com/nl/genes/cldn14" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 7, "url": "https://dantelabs.com/genes/otof/variants", "items": [ { "slug": "c-2215-1g-c", "name": "c.2215-1G>C", "commonName": null, "symbol": "OTOF", "classification": "likely-pathogenic", "stars": 3, "hgvsC": null, "position": 26477750, "grch37Position": 26700618, "part": { "kind": "intron", "number": 18 }, "url": "https://dantelabs.com/genes/otof/variants/c-2215-1g-c" }, { "slug": "c-5193-1g-a", "name": "c.5193-1G>A", "commonName": null, "symbol": "OTOF", "classification": "likely-pathogenic", "stars": 3, "hgvsC": null, "position": 26462182, "grch37Position": 26685050, "part": { "kind": "intron", "number": 41 }, "url": "https://dantelabs.com/genes/otof/variants/c-5193-1g-a" }, { "slug": "e1700q", "name": "E1700Q", "commonName": null, "symbol": "OTOF", "classification": "pathogenic", "stars": 3, "hgvsC": "c.5098G>C", "position": 26463969, "grch37Position": 26686837, "part": { "kind": "exon", "number": 40 }, "url": "https://dantelabs.com/genes/otof/variants/e1700q" }, { "slug": "q829x", "name": "Q829X", "commonName": null, "symbol": "OTOF", "classification": "pathogenic", "stars": 3, "hgvsC": "c.2485C>T", "position": 26477210, "grch37Position": 26700078, "part": { "kind": "exon", "number": 21 }, "url": "https://dantelabs.com/genes/otof/variants/q829x" }, { "slug": "r708x", "name": "R708X", "commonName": null, "symbol": "OTOF", "classification": "pathogenic", "stars": 3, "hgvsC": "c.2122C>T", "position": 26479356, "grch37Position": 26702224, "part": { "kind": "exon", "number": 18 }, "url": "https://dantelabs.com/genes/otof/variants/r708x" }, { "slug": "r1583h", "name": "R1583H", "commonName": null, "symbol": "OTOF", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.4748G>A", "position": 26465723, "grch37Position": 26688591, "part": { "kind": "exon", "number": 38 }, "url": "https://dantelabs.com/genes/otof/variants/r1583h" }, { "slug": "r1792c", "name": "R1792C", "commonName": null, "symbol": "OTOF", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.5374C>T", "position": 26461855, "grch37Position": 26684723, "part": { "kind": "exon", "number": 43 }, "url": "https://dantelabs.com/genes/otof/variants/r1792c" } ] } }