{ "url": "https://dantelabs.com/sv/genes/kcnc3", "gene": { "slug": "kcnc3", "symbol": "KCNC3", "name": "potassium voltage-gated channel subfamily C member 3", "hgnc": "HGNC:6235", "summary": null, "location": "19q13.33", "locusType": "gene with protein product", "aliases": [ "Kv3.3" ], "previousSymbols": [ "SCA13" ], "ensemblId": "ENSG00000131398", "entrezId": 3748, "omim": [ "176264" ], "uniprot": [ "Q14003" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 50311937, "end": 50329377, "strand": "-", "ensemblTranscript": "ENST00000477616.2", "refseqTranscript": "NM_004977.3", "ensemblProtein": "ENSP00000434241.1", "refseqProtein": "NP_004968.2", "exons": [ { "start": 50311937, "end": 50316091 }, { "start": 50320223, "end": 50320349 }, { "start": 50320593, "end": 50320784 }, { "start": 50322975, "end": 50324082 }, { "start": 50328213, "end": 50329377 } ], "cds": { "start": 50320246, "end": 50329082 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": 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"protein_coding", "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" }, { "symbol": "GPR32", "ensemblId": "ENSG00000142511", "biotype": "protein_coding", "start": 50770464, "end": 50771732, "strand": "+", "slug": "gpr32" }, { "symbol": "SMIM47", "ensemblId": "ENSG00000261341", "biotype": "protein_coding", "start": 50776141, "end": 50793142, "strand": "-", "slug": "smim47" }, { "symbol": "ACP4", "ensemblId": "ENSG00000142513", "biotype": "protein_coding", "start": 50790415, "end": 50795219, "strand": "+", "slug": "acp4" }, { "symbol": "KLK1", "ensemblId": "ENSG00000167748", "biotype": "protein_coding", "start": 50819146, "end": 50823787, "strand": "-", "slug": "klk1" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Autosomala dominanta cerebellära ataxier (SCA och DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Autosomal dominant cerebellär ataxi", "genes": 36, "inheritance": "autosomal-dominant", "description": "En grupp dominant ärftliga ataxier, inklusive SCA1, SCA2, SCA3 (Machado-Josephs sjukdom), SCA6, SCA7, SCA17, SCA27B och DRPLA, orsakade av repetitionsexpansioner eller punktvarianter i gener som ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 och FGF14.", "management": "Genetisk rådgivning och presymptomatisk testning för släktingar, sjukgymnastik och symtomlindring; vissa former, till exempel SCA27B, kan svara på specifik medicinering.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/autosomal-dominant-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormal-pyramidal-tract-morphology", "name": "Abnormal pyramidal tract morphology", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-pyramidal-tract-morphology" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clumsiness" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "difficulty-running", "name": "Difficulty running", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-running" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hyperactive-deep-tendon-reflexes", "name": "Hyperactive deep tendon reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperactive-deep-tendon-reflexes" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "impaired-visuospatial-constructive-cognition", "name": "Impaired visuospatial constructive cognition", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-visuospatial-constructive-cognition" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "jerky-ocular-pursuit-movements", "name": "Jerky ocular pursuit movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/jerky-ocular-pursuit-movements" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "titubation", "name": "Titubation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/titubation" }, { "slug": "limb-dysmetria", "name": "Uncoordinated limb movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/limb-dysmetria" }, { "slug": "upgaze-palsy", "name": "Upgaze palsy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/upgaze-palsy" }, { "slug": "urinary-urgency", "name": "Urinary urgency", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-urgency" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 1, "url": "https://dantelabs.com/sv/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/atxn3" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 1, "url": "https://dantelabs.com/sv/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 1, "url": "https://dantelabs.com/sv/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 1, "url": "https://dantelabs.com/sv/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/camta1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }