{ "url": "https://dantelabs.com/tr/genes/ush1c", "gene": { "slug": "ush1c", "symbol": "USH1C", "name": "USH1 protein network component harmonin", "hgnc": "HGNC:12597", "summary": null, "location": "11p15.1", "locusType": "gene with protein product", "aliases": [ "PDZ73", "harmonin", "NY-CO-37", "NY-CO-38", "PDZ-73", "AIE-75", "PDZD7C" ], "previousSymbols": [ "DFNB18" ], "ensemblId": "ENSG00000006611", "entrezId": 10083, "omim": [ "605242" ], "uniprot": [ "Q9Y6N9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 17493900, "end": 17544416, "strand": "-", "ensemblTranscript": "ENST00000005226.12", "refseqTranscript": "NM_153676.4", "ensemblProtein": "ENSP00000005226.7", "refseqProtein": "NP_710142.1", "exons": [ { "start": 17493900, "end": 17494376 }, { "start": 17495569, "end": 17495677 }, { "start": 17496758, "end": 17496813 }, { "start": 17498162, "end": 17498271 }, { "start": 17501051, "end": 17501150 }, { "start": 17501482, "end": 17501535 }, { "start": 17501939, "end": 17501980 }, { "start": 17504647, "end": 17504697 }, { "start": 17505830, "end": 17505949 }, { "start": 17509356, "end": 17509838 }, { "start": 17510405, "end": 17510521 }, { "start": 17511902, "end": 17512054 }, { "start": 17516241, "end": 17516290 }, { "start": 17520870, "end": 17520994 }, { "start": 17521346, "end": 17521411 }, { "start": 17522784, "end": 17522926 }, { "start": 17523211, "end": 17523267 }, { "start": 17523419, "end": 17523478 }, { "start": 17524451, "end": 17524535 }, { "start": 17526347, "end": 17526441 }, { "start": 17526753, "end": 17526810 }, { "start": 17527016, "end": 17527040 }, { "start": 17527223, "end": 17527331 }, { "start": 17531154, "end": 17531292 }, { "start": 17531399, "end": 17531542 }, { "start": 17533255, "end": 17533322 }, { "start": 17544272, "end": 17544416 } ], "cds": { "start": 17494332, "end": 17544307 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 17515442, "end": 17565963, "strand": "-" }, "neighbourhood": { "release": "116", "start": 17019158, "end": 18019157, "genes": [ { "symbol": "RPS13", "ensemblId": "ENSG00000110700", "biotype": "protein_coding", "start": 17066750, "end": 17077729, "strand": "-", "slug": "rps13" }, { "symbol": "PIK3C2A", "ensemblId": "ENSG00000011405", "biotype": "protein_coding", "start": 17077730, "end": 17207986, "strand": "-", "slug": "pik3c2a" }, { "symbol": "NUCB2", "ensemblId": "ENSG00000070081", "biotype": "protein_coding", "start": 17208072, "end": 17349980, "strand": "+", "slug": "nucb2" }, { "symbol": "NCR3LG1", "ensemblId": "ENSG00000188211", "biotype": "protein_coding", "start": 17351677, "end": 17377341, "strand": "+", "slug": "ncr3lg1" }, { "symbol": "KCNJ11", "ensemblId": "ENSG00000187486", "biotype": "protein_coding", "start": 17364082, "end": 17389364, "strand": "-", "slug": "kcnj11" }, { "symbol": "ABCC8", "ensemblId": "ENSG00000006071", "biotype": "protein_coding", "start": 17392498, "end": 17476894, "strand": "-", "slug": "abcc8" }, { "symbol": "OTOG", "ensemblId": "ENSG00000188162", "biotype": "protein_coding", "start": 17547259, "end": 17647150, "strand": "+", "slug": "otog" }, { "symbol": "MYOD1", "ensemblId": "ENSG00000129152", "biotype": "protein_coding", "start": 17719565, "end": 17722136, "strand": "+", "slug": "myod1" }, { "symbol": "KCNC1", "ensemblId": "ENSG00000129159", "biotype": "protein_coding", "start": 17734724, "end": 17856811, "strand": "+", "slug": "kcnc1" }, { "symbol": "SERGEF", "ensemblId": "ENSG00000129158", "biotype": "protein_coding", "start": 17788043, "end": 18013199, "strand": "-", "slug": "sergef" }, { "symbol": "TPH1", "ensemblId": "ENSG00000129167", "biotype": "protein_coding", "start": 18017555, "end": 18046269, "strand": "-", "slug": "tph1" } ], "truncated": false }, "reports": [ { "slug": "usher-syndrome", "name": "Usher Sendromu", "diseases": [ { "mondoId": "MONDO:0019501", "name": "Usher Sendromu", "genes": 11, "inheritance": "autosomal-recessive", "description": "Sensörinöral işitme kaybına, ilerleyici retinitis pigmentosaya ve bazı tiplerde denge sorunlarına yol açan, çekinik kalıtılan bir grup durumdur (tip 1 ila 4). USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 ve ARSG gibi genlerle ilişkilidir.", "management": "Erken tanı; koklear implant zamanlaması, göz takibi ve retinal tedavi çalışmalarına uygunluk konusunda karar vermeye yardımcı olur ve taşıyıcı taramasıyla da ilgilidir.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/usher-syndrome" }, { "slug": "hearing-loss-and-deafness", "name": "İşitme Kaybı ve Sağırlık", "diseases": [ { "mondoId": "MONDO:0019497", "name": "Sendromik Olmayan Genetik İşitme Kaybı", "genes": 97, "inheritance": null, "description": "Diğer tıbbi belirtiler olmaksızın görülen kalıtsal işitme kaybı; GJB2, OTOF, SLC26A4, STRC ve diğer birçok gen nedeniyle oluşan yaygın çekinik formların yanı sıra baskın, X'e bağlı ve mitokondriyal formları da içerir.", "management": "Genetik nedeni bilmek; işitme desteği ve koklear implant kararlarına, gen tedavisi çalışmalarına uygunluğa (örneğin OTOF) ve aile danışmanlığına yol gösterebilir.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cochlea-morphology", "name": "Abnormal cochlea morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-cochlea-morphology" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "gait-imbalance", "name": "Abnormality of balance", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-imbalance" }, { "slug": "absent-vestibular-function", "name": "Absent vestibular function", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/absent-vestibular-function" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "scotoma", "name": "Blind spot", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scotoma" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "congenital-sensorineural-hearing-impairment", "name": "Congenital sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "peripheral-visual-field-loss", "name": "Loss of peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-visual-field-loss" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "undetectable-electroretinogram", "name": "Undetectable electroretinogram", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/undetectable-electroretinogram" }, { "slug": "vestibular-hyporeflexia", "name": "Vestibular hyporeflexia", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/vestibular-hyporeflexia" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "cdh23", "symbol": "CDH23", "name": "cadherin related 23", "shared": 2, "url": "https://dantelabs.com/tr/genes/cdh23" }, { "slug": "myo7a", "symbol": "MYO7A", "name": "myosin VIIA", "shared": 2, "url": "https://dantelabs.com/tr/genes/myo7a" }, { "slug": "pcdh15", "symbol": "PCDH15", "name": "protocadherin related 15", "shared": 2, "url": "https://dantelabs.com/tr/genes/pcdh15" }, { "slug": "whrn", "symbol": "WHRN", "name": "whirlin", "shared": 2, "url": "https://dantelabs.com/tr/genes/whrn" }, { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/actg1" }, { "slug": "adgrv1", "symbol": "ADGRV1", "name": "adhesion G protein-coupled receptor V1", "shared": 1, "url": "https://dantelabs.com/tr/genes/adgrv1" }, { "slug": "afg2b", "symbol": "AFG2B", "name": "AAA ATPase AFG2B", "shared": 1, "url": "https://dantelabs.com/tr/genes/afg2b" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aifm1" }, { "slug": "arsg", "symbol": "ARSG", "name": "arylsulfatase G", "shared": 1, "url": "https://dantelabs.com/tr/genes/arsg" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/tr/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/atp2b2" }, { "slug": "cabp2", "symbol": "CABP2", "name": "calcium binding protein 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/cabp2" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }