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"biotype": "protein_coding", "start": 77514936, "end": 77637813, "strand": "-", "slug": "clns1a" }, { "symbol": "AQP11", "ensemblId": "ENSG00000178301", "biotype": "protein_coding", "start": 77589391, "end": 77635772, "strand": "+", "slug": "aqp11" }, { "symbol": "RSF1", "ensemblId": "ENSG00000048649", "biotype": "protein_coding", "start": 77660009, "end": 77821020, "strand": "-", "slug": "rsf1" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Hörselnedsättning och dövhet", "diseases": [ { "mondoId": "MONDO:0019587", "name": "Autosomalt dominant icke-syndromisk hörselnedsättning", "genes": 39, "inheritance": "autosomal-dominant", "description": "Autosomalt dominant form av icke-syndromisk dövhet.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "Natera" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Icke-syndromisk ärftlig hörselnedsättning", "genes": 97, "inheritance": null, "description": "Ärftlig hörselnedsättning utan andra medicinska symtom, inklusive de vanliga recessiva formerna orsakade av GJB2, OTOF, SLC26A4, STRC och många andra gener, samt dominanta, X-kopplade och mitokondriella former.", "management": "Att känna till den genetiska orsaken kan vägleda hörselstöd och beslut om cochleaimplantat, behörighet till studier med genterapi (till exempel OTOF) och familjerådgivning.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/hearing-loss-and-deafness" }, { "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": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "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": "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": "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": "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": "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": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "scotoma", "name": "Blind spot", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scotoma" }, { "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": "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": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "iris-hypopigmentation", "name": "Light eye color", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/iris-hypopigmentation" }, { "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": "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": "reduced-contrast-sensitivity", "name": "Reduced contrast sensitivity", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-contrast-sensitivity" }, { "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": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/actg1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/sv/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": 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