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"start": 50516892, "end": 50568435, "strand": "-", "slug": "lrrc4b" }, { "symbol": "SYT3", "ensemblId": "ENSG00000213023", "biotype": "protein_coding", "start": 50621307, "end": 50640040, "strand": "-", "slug": "syt3" }, { "symbol": "C19orf81", "ensemblId": "ENSG00000235034", "biotype": "protein_coding", "start": 50648792, "end": 50659310, "strand": "+", "slug": "c19orf81" }, { "symbol": "SHANK1", "ensemblId": "ENSG00000161681", "biotype": "protein_coding", "start": 50659255, "end": 50719802, "strand": "-", "slug": "shank1" }, { "symbol": "CLEC11A", "ensemblId": "ENSG00000105472", "biotype": "protein_coding", "start": 50723283, "end": 50725719, "strand": "+", "slug": "clec11a" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Klausos ir kurtumas", "diseases": [ { "mondoId": "MONDO:0019587", "name": "Autosominis dominantinis nesindrominis klausos sutrikimas", "genes": 39, "inheritance": "autosomal-dominant", "description": "Autosominė dominantinė nesindrominio kurtumo forma.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Nesindrominė paveldima klausos netekimas", "genes": 97, "inheritance": null, "description": "Paveldimas klausos netekimas be kitų medicininių požymių, įskaitant dažniausias recesyvines formas, kurias sukelia GJB2, OTOF, SLC26A4, STRC ir daugelis kitų genų, taip pat dominantines, X chromosomai susietas ir mitochondrines formas.", "management": "Žinojimas apie genetinę priežastį gali padėti priimti sprendimus dėl klausos pagalbos ir kochlearinio implanto, nustatyti tinkamumą genų terapijos tyrimams (pavyzdžiui, OTOF) bei suteikti konsultacijas šeimai.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-foot-morphology", "name": "Abnormal feet structure", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-foot-morphology" }, { "slug": "absent-patellar-reflexes", "name": "Absent knee jerk reflex", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-patellar-reflexes" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "decreased-patellar-reflex", "name": "Decreased knee jerk reflex", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-patellar-reflex" }, { "slug": "decreased-nerve-conduction-velocity", "name": "Decreased nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "fatty-replacement-of-skeletal-muscle", "name": "Fatty replacement of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle" }, { "slug": "fiber-type-grouping", "name": "Fiber type grouping", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fiber-type-grouping" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hoarse-voice", "name": "Hoarse voice", "systems": [ "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hoarse-voice" }, { "slug": "vocal-cord-paralysis", "name": "Inability to move vocal cords", "systems": [ "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/vocal-cord-paralysis" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "mildly-elevated-creatine-kinase", "name": "Mildly elevated creatine kinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase" }, { "slug": "mitochondrial-swelling", "name": "Mitochondrial swelling", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitochondrial-swelling" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-distal-muscle-weakness", "name": "Progressive distal muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-distal-muscle-weakness" }, { "slug": "progressive-sensorineural-hearing-impairment", "name": "Progressive sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "structural-foot-deformity", "name": "Structural foot deformity", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/structural-foot-deformity" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/actg1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": "https://dantelabs.com/lt/genes/cd164" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 2, "url": "https://dantelabs.com/lt/genes/ceacam16" }, { "slug": "coch", "symbol": "COCH", "name": "cochlin", "shared": 2, "url": "https://dantelabs.com/lt/genes/coch" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 2, "url": "https://dantelabs.com/lt/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "name": "collagen type XI alpha 2 chain", "shared": 2, "url": "https://dantelabs.com/lt/genes/col11a2" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/diaph1" }, { "slug": "eya4", "symbol": "EYA4", "name": "EYA transcriptional coactivator and phosphatase 4", "shared": 2, "url": "https://dantelabs.com/lt/genes/eya4" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/gjb2" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 2, "url": "https://dantelabs.com/lt/genes/gjb6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }