{ "url": "https://dantelabs.com/pl/genes/adgrv1", "gene": { "slug": "adgrv1", "symbol": "ADGRV1", "name": "adhesion G protein-coupled receptor V1", "hgnc": "HGNC:17416", "summary": null, "location": "5q14.3", "locusType": "gene with protein product", "aliases": [ "DKFZp761P0710", "KIAA0686", "FEB4", "VLGR1" ], "previousSymbols": [ "USH2C", "MASS1", "GPR98" ], "ensemblId": "ENSG00000164199", "entrezId": 84059, "omim": [ "602851" ], "uniprot": [ "Q8WXG9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 90558797, "end": 91164437, "strand": "+", "ensemblTranscript": "ENST00000405460.9", "refseqTranscript": "NM_032119.4", "ensemblProtein": "ENSP00000384582.2", "refseqProtein": "NP_115495.3", "exons": [ { "start": 90558797, "end": 90558917 }, { "start": 90614835, "end": 90615019 }, { "start": 90617804, "end": 90617953 }, { "start": 90619086, "end": 90619181 }, { "start": 90622597, "end": 90622701 }, { "start": 90625130, "end": 90625243 }, { "start": 90627211, "end": 90627776 }, { "start": 90628562, "end": 90628832 }, { "start": 90629210, "end": 90629539 }, { "start": 90635114, "end": 90635290 }, { "start": 90637725, "end": 90637948 }, { "start": 90642636, "end": 90642762 }, { "start": 90642856, "end": 90643041 }, { "start": 90643803, "end": 90643983 }, { "start": 90644706, "end": 90644869 }, { "start": 90645968, "end": 90646091 }, { "start": 90647498, "end": 90647764 }, { "start": 90651604, "end": 90651730 }, { "start": 90652346, "end": 90652563 }, { "start": 90653209, "end": 90653952 }, { "start": 90657905, "end": 90658278 }, { "start": 90672546, "end": 90672722 }, { "start": 90674054, "end": 90674234 }, { "start": 90675243, "end": 90675445 }, { "start": 90676080, "end": 90676209 }, { "start": 90679549, "end": 90679629 }, { "start": 90681315, "end": 90681454 }, { "start": 90683586, "end": 90684195 }, { "start": 90685780, "end": 90685995 }, { "start": 90689861, "end": 90690076 }, { "start": 90690797, "end": 90691041 }, { "start": 90692605, "end": 90692786 }, { "start": 90693890, "end": 90694701 }, { "start": 90696937, "end": 90697146 }, { "start": 90703665, "end": 90703795 }, { "start": 90704389, "end": 90704488 }, { "start": 90705400, "end": 90705579 }, { "start": 90706231, "end": 90706394 }, { "start": 90708816, "end": 90708909 }, { "start": 90710981, "end": 90711059 }, { "start": 90711184, "end": 90711322 }, { "start": 90712287, "end": 90712428 }, { "start": 90716467, "end": 90716729 }, { "start": 90720048, "end": 90720223 }, { "start": 90720935, "end": 90721059 }, { "start": 90724832, "end": 90724989 }, { "start": 90725086, "end": 90725232 }, { "start": 90725549, "end": 90725656 }, { "start": 90728669, "end": 90728933 }, { "start": 90729642, "end": 90729764 }, { "start": 90745046, "end": 90745265 }, { "start": 90745591, "end": 90745795 }, { "start": 90750551, "end": 90750697 }, { "start": 90753574, "end": 90753829 }, { "start": 90754983, "end": 90755185 }, { "start": 90756454, "end": 90756630 }, { "start": 90756979, "end": 90757161 }, { "start": 90759409, "end": 90759588 }, { "start": 90763305, "end": 90763469 }, { "start": 90774186, "end": 90774303 }, { "start": 90776453, "end": 90776576 }, { "start": 90777905, "end": 90778043 }, { "start": 90778427, "end": 90778609 }, { "start": 90778865, "end": 90779097 }, { "start": 90781430, "end": 90781578 }, { "start": 90783124, "end": 90783325 }, { "start": 90783838, "end": 90784057 }, { "start": 90788071, "end": 90788310 }, { "start": 90789702, "end": 90789851 }, { "start": 90790873, "end": 90791346 }, { "start": 90802739, "end": 90802882 }, { "start": 90805284, "end": 90805458 }, { "start": 90807602, "end": 90807737 }, { "start": 90810233, "end": 90811338 }, { "start": 90815619, "end": 90815736 }, { "start": 90823425, "end": 90823596 }, { "start": 90828944, "end": 90829186 }, { "start": 90840578, "end": 90840985 }, { "start": 90848637, "end": 90848821 }, { "start": 90853284, "end": 90853533 }, { "start": 90854062, "end": 90854201 }, { "start": 90855741, "end": 90855901 }, { "start": 90863757, "end": 90863857 }, { "start": 90965415, "end": 90965531 }, { "start": 90985344, "end": 90985522 }, { "start": 91072447, "end": 91072604 }, { "start": 91102219, "end": 91102340 }, { "start": 91150030, "end": 91150221 }, { "start": 91153221, "end": 91153398 }, { "start": 91163782, "end": 91164437 } ], "cds": { "start": 90558896, "end": 91163900 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 89825161, "end": 90460038, "strand": "+" }, "neighbourhood": { "release": "116", "start": 89953156, "end": 91770078, "genes": [ { "symbol": "CETN3", "ensemblId": "ENSG00000153140", "biotype": "protein_coding", "start": 90389658, "end": 90409793, "strand": "-", "slug": "cetn3" }, { "symbol": "MBLAC2", "ensemblId": "ENSG00000176055", "biotype": "protein_coding", "start": 90457960, "end": 90474786, "strand": "-", "slug": "mblac2" }, { "symbol": "POLR3G", "ensemblId": "ENSG00000113356", "biotype": "protein_coding", "start": 90471748, "end": 90514559, "strand": "+", "slug": "polr3g" }, { "symbol": "LYSMD3", "ensemblId": "ENSG00000176018", "biotype": "protein_coding", "start": 90512565, "end": 90529745, "strand": "-", "slug": "lysmd3" }, { "symbol": "ARRDC3", "ensemblId": "ENSG00000113369", "biotype": "protein_coding", "start": 91368631, "end": 91383348, "strand": "-", "slug": "arrdc3" } ], "truncated": false }, "reports": [ { "slug": "usher-syndrome", "name": "Zespół Ushera", "diseases": [ { "mondoId": "MONDO:0019501", "name": "Zespół Ushera", "genes": 11, "inheritance": "autosomal-recessive", "description": "Grupa recesywnych chorób (typy 1–4), które powodują czuciowo-nerwowy niedosłuch, postępujące barwnikowe zwyrodnienie siatkówki oraz, w niektórych typach, zaburzenia równowagi. Są związane z genami takimi jak USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 i ARSG.", "management": "Wczesne rozpoznanie pomaga w podejmowaniu decyzji dotyczących terminu wszczepienia implantu ślimakowego, monitorowania wzroku oraz kwalifikacji do badań klinicznych terapii siatkówki, a także ma znaczenie w badaniach przesiewowych nosicielstwa.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/usher-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "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": "very-rare", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "gait-imbalance", "name": "Abnormality of balance", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-imbalance" }, { "slug": "abnormality-of-the-inner-ear", "name": "Abnormality of the inner ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-inner-ear" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "atypical-absence-status-epilepticus", "name": "Atypical absence status epilepticus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-absence-status-epilepticus" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "scotoma", "name": "Blind spot", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scotoma" }, { "slug": "generalized-non-motor-absence-seizure", "name": "Brief seizures with staring spells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "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": "cortical-dysplasia", "name": "Cortical dysplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cortical-dysplasia" }, { "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": "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": "frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "eeg-with-spike-wave-complexes", "name": "EEG with spike-wave complexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/eeg-with-spike-wave-complexes" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years", "name": "Febrile seizure (within the age range of 3 months to 6 years)", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "generalized-cerebral-atrophy-hypoplasia", "name": "Generalized cerebral degeneration/underdevelopment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-cerebral-atrophy-hypoplasia" }, { "slug": "generalized-myoclonic-seizure", "name": "Generalized myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure" }, { "slug": "generalized-tonic-seizure", "name": "Generalized tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/generalized-tonic-seizure" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-onset-seizure" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "incoordination", "name": "Incoordination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/incoordination" }, { "slug": "iris-hypopigmentation", "name": "Light eye color", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/iris-hypopigmentation" }, { "slug": "limited-knee-extension", "name": "Limited knee straightening", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/limited-knee-extension" }, { "slug": "constriction-of-peripheral-visual-field", "name": "Limited peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/developmental-regression" }, { "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": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "obsessive-compulsive-trait", "name": "Obsessive-compulsive trait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/obsessive-compulsive-trait" }, { "slug": "poor-fine-motor-coordination", "name": "Poor fine motor coordination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/poor-fine-motor-coordination" }, { "slug": "reduced-contrast-sensitivity", "name": "Reduced contrast sensitivity", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-contrast-sensitivity" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "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": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "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": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "atonic-seizure", "name": "Sudden loss of muscle tone", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atonic-seizure" }, { "slug": "talipes-valgus", "name": "Talipes valgus", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/talipes-valgus" }, { "slug": "tibial-torsion", "name": "Tibial torsion", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/tibial-torsion" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "arsg", "symbol": "ARSG", "name": "arylsulfatase G", "shared": 1, "url": "https://dantelabs.com/pl/genes/arsg" }, { "slug": "cdh23", "symbol": "CDH23", "name": "cadherin related 23", "shared": 1, "url": "https://dantelabs.com/pl/genes/cdh23" }, { "slug": "clrn1", "symbol": "CLRN1", "name": "clarin 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/clrn1" }, { "slug": "hars1", "symbol": "HARS1", "name": "histidyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/hars1" }, { "slug": "myo7a", "symbol": "MYO7A", "name": "myosin VIIA", "shared": 1, "url": "https://dantelabs.com/pl/genes/myo7a" }, { "slug": "pcdh15", "symbol": "PCDH15", "name": "protocadherin related 15", "shared": 1, "url": "https://dantelabs.com/pl/genes/pcdh15" }, { "slug": "ush1c", "symbol": "USH1C", "name": "USH1 protein network component harmonin", "shared": 1, "url": "https://dantelabs.com/pl/genes/ush1c" }, { "slug": "ush1g", "symbol": "USH1G", "name": "USH1 protein network component sans", "shared": 1, "url": "https://dantelabs.com/pl/genes/ush1g" }, { "slug": "ush2a", "symbol": "USH2A", "name": "usherin", "shared": 1, "url": "https://dantelabs.com/pl/genes/ush2a" }, { "slug": "whrn", "symbol": "WHRN", "name": "whirlin", "shared": 1, "url": "https://dantelabs.com/pl/genes/whrn" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }