{ "url": "https://dantelabs.com/sv/genes/ush1g", "gene": { "slug": "ush1g", "symbol": "USH1G", "name": "USH1 protein network component sans", "hgnc": "HGNC:16356", "summary": null, "location": "17q25.1", "locusType": "gene with protein product", "aliases": [ "Sans", "FLJ33924", "ANKS4A" ], "previousSymbols": [], "ensemblId": "ENSG00000182040", "entrezId": 124590, "omim": [ "607696" ], "uniprot": [ "Q495M9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 74916083, "end": 74923255, "strand": "-", "ensemblTranscript": "ENST00000614341.5", "refseqTranscript": "NM_173477.5", "ensemblProtein": "ENSP00000480279.1", "refseqProtein": "NP_775748.2", "exons": [ { "start": 74916083, "end": 74918076 }, { "start": 74919454, "end": 74920671 }, { "start": 74922910, "end": 74923255 } ], "cds": { "start": 74918073, "end": 74923073 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 72912176, "end": 72919351, "strand": "-" }, "neighbourhood": { 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"symbol": "MRPL58", "ensemblId": "ENSG00000167862", "biotype": "protein_coding", "start": 75012657, "end": 75021266, "strand": "+", "slug": "mrpl58" }, { "symbol": "KCTD2", "ensemblId": "ENSG00000180901", "biotype": "protein_coding", "start": 75032575, "end": 75065889, "strand": "+", "slug": "kctd2" }, { "symbol": "ATP5PD", "ensemblId": "ENSG00000167863", "biotype": "protein_coding", "start": 75038618, "end": 75047718, "strand": "-", "slug": "atp5pd" }, { "symbol": "SLC16A5", "ensemblId": "ENSG00000170190", "biotype": "protein_coding", "start": 75077226, "end": 75107420, "strand": "+", "slug": "slc16a5" }, { "symbol": "ARMC7", "ensemblId": "ENSG00000125449", "biotype": "protein_coding", "start": 75109941, "end": 75130272, "strand": "+", "slug": "armc7" }, { "symbol": "NT5C", "ensemblId": "ENSG00000125458", "biotype": "protein_coding", "start": 75130225, "end": 75131806, "strand": "-", "slug": "nt5c" }, { "symbol": "JPT1", "ensemblId": "ENSG00000189159", "biotype": "protein_coding", "start": 75135243, "end": 75168281, "strand": "-", "slug": "jpt1" }, { "symbol": "SUMO2", "ensemblId": "ENSG00000188612", "biotype": "protein_coding", "start": 75165586, "end": 75182991, "strand": "-", "slug": "sumo2" }, { "symbol": "NUP85", "ensemblId": "ENSG00000125450", "biotype": "protein_coding", "start": 75205482, "end": 75235759, "strand": "+", "slug": "nup85" }, { "symbol": "GGA3", "ensemblId": "ENSG00000125447", "biotype": "protein_coding", "start": 75236595, "end": 75262363, "strand": "-", "slug": "gga3" }, { "symbol": "MRPS7", "ensemblId": "ENSG00000125445", "biotype": "protein_coding", "start": 75261662, "end": 75270708, "strand": "+", "slug": "mrps7" }, { "symbol": "MIF4GD", "ensemblId": "ENSG00000125457", "biotype": "protein_coding", "start": 75266228, "end": 75271237, "strand": "-", "slug": "mif4gd" }, { "symbol": "SLC25A19", "ensemblId": "ENSG00000125454", "biotype": "protein_coding", "start": 75272012, "end": 75289968, "strand": "-", "slug": "slc25a19" }, { "symbol": "GRB2", "ensemblId": "ENSG00000177885", "biotype": "protein_coding", "start": 75318072, "end": 75405720, "strand": "-", "slug": "grb2" } ], "truncated": false }, "reports": [ { "slug": "usher-syndrome", "name": "Ushers syndrom", "diseases": [ { "mondoId": "MONDO:0019501", "name": "Ushers syndrom", "genes": 11, "inheritance": "autosomal-recessive", "description": "En grupp recessiva sjukdomar (typ 1 till 4) som orsakar sensorineural hörselnedsättning, progressiv retinitis pigmentosa och, hos vissa typer, balansproblem. Sjukdomarna är kopplade till gener som USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 och ARSG.", "management": "En tidig diagnos hjälper till vid beslut om tidpunkten för cochleaimplantat, ögonkontroller och behörighet för försök med retinal terapi, och är relevant vid bärarscreening.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/usher-syndrome" } ], "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": "very-frequent", "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": "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": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "hypoplasia-of-the-nasal-bone", "name": "Decreased size of nasal bone", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-nasal-bone" }, { "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": "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": "very-frequent", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "adgrv1", "symbol": "ADGRV1", "name": "adhesion G protein-coupled receptor V1", "shared": 1, "url": "https://dantelabs.com/sv/genes/adgrv1" }, { "slug": "arsg", "symbol": "ARSG", "name": "arylsulfatase G", "shared": 1, "url": "https://dantelabs.com/sv/genes/arsg" }, { "slug": "cdh23", "symbol": "CDH23", "name": "cadherin related 23", "shared": 1, "url": "https://dantelabs.com/sv/genes/cdh23" }, { "slug": "clrn1", "symbol": "CLRN1", "name": "clarin 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/clrn1" }, { "slug": "hars1", "symbol": "HARS1", "name": "histidyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/hars1" }, { "slug": "myo7a", "symbol": "MYO7A", "name": "myosin VIIA", "shared": 1, "url": "https://dantelabs.com/sv/genes/myo7a" }, { "slug": "pcdh15", "symbol": "PCDH15", "name": "protocadherin related 15", "shared": 1, "url": "https://dantelabs.com/sv/genes/pcdh15" }, { "slug": "ush1c", "symbol": "USH1C", "name": "USH1 protein network component harmonin", "shared": 1, "url": "https://dantelabs.com/sv/genes/ush1c" }, { "slug": "ush2a", "symbol": "USH2A", "name": "usherin", "shared": 1, "url": "https://dantelabs.com/sv/genes/ush2a" }, { "slug": "whrn", "symbol": "WHRN", "name": "whirlin", "shared": 1, "url": "https://dantelabs.com/sv/genes/whrn" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }