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"start": 65786714, "end": 65797219, "strand": "+", "slug": "ovol1" }, { "symbol": "CFL1", "ensemblId": "ENSG00000172757", "biotype": "protein_coding", "start": 65823022, "end": 65862026, "strand": "-", "slug": "cfl1" }, { "symbol": "SNX32", "ensemblId": "ENSG00000172803", "biotype": "protein_coding", "start": 65833664, "end": 65856896, "strand": "+", "slug": "snx32" }, { "symbol": "MUS81", "ensemblId": "ENSG00000172732", "biotype": "protein_coding", "start": 65857126, "end": 65867653, "strand": "+", "slug": "mus81" }, { "symbol": "EFEMP2", "ensemblId": "ENSG00000172638", "biotype": "protein_coding", "start": 65866300, "end": 65878497, "strand": "-", "slug": "efemp2" }, { "symbol": "CTSW", "ensemblId": "ENSG00000172543", "biotype": "protein_coding", "start": 65879809, "end": 65883741, "strand": "+", "slug": "ctsw" }, { "symbol": "FIBP", "ensemblId": "ENSG00000172500", "biotype": "protein_coding", "start": 65883740, "end": 65888532, "strand": "-", "slug": "fibp" }, { "symbol": "CCDC85B", "ensemblId": "ENSG00000175602", "biotype": "protein_coding", "start": 65890673, "end": 65891635, "strand": "+", "slug": "ccdc85b" }, { "symbol": "FOSL1", "ensemblId": "ENSG00000175592", "biotype": "protein_coding", "start": 65892049, "end": 65900573, "strand": "-", "slug": "fosl1" }, { "symbol": "C11orf68", "ensemblId": "ENSG00000175573", "biotype": "protein_coding", "start": 65916810, "end": 65919137, "strand": "-", "slug": "c11orf68" }, { "symbol": "DRAP1", "ensemblId": "ENSG00000175550", "biotype": "protein_coding", "start": 65919258, "end": 65921565, "strand": "+", "slug": "drap1" }, { "symbol": "TSGA10IP", "ensemblId": "ENSG00000175513", "biotype": "protein_coding", "start": 65945480, "end": 65960217, "strand": "+", "slug": "tsga10ip" }, { "symbol": "SART1", "ensemblId": "ENSG00000175467", "biotype": "protein_coding", "start": 65961681, "end": 65980137, "strand": "+", "slug": "sart1" }, { "symbol": "EIF1AD", "ensemblId": "ENSG00000175376", "biotype": "protein_coding", "start": 65992009, "end": 66002472, "strand": "-", "slug": "eif1ad" }, { "symbol": "BANF1", "ensemblId": "ENSG00000175334", "biotype": "protein_coding", "start": 66001832, "end": 66004170, "strand": "+", "slug": "banf1" }, { "symbol": "CST6", "ensemblId": "ENSG00000175315", "biotype": "protein_coding", "start": 66011506, "end": 66013505, "strand": "+", "slug": "cst6" }, { "symbol": "CATSPER1", "ensemblId": "ENSG00000175294", "biotype": "protein_coding", "start": 66016752, "end": 66026479, "strand": "-", "slug": "catsper1" } ], "truncated": false }, "reports": [ { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "常染色体隐性小脑共济失调(包括CANVAS和AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "상염색체 열성 소뇌성 운동실조증", "genes": 57, "inheritance": "autosomal-recessive", "description": "RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10, SYNE1 등의 유전자에서 두 개의 대립유전자에 변이가 있을 때 발생하는 열성 유전 운동실조증 그룹입니다.", "management": "비타민 E 결핍 운동실조증(TTPA)은 비타민 E 보충제로 치료할 수 있습니다. 그 밖의 유형은 물리치료와 증상 관리를 통해 관리하며, 가족에게는 보인자 검사를 권해드릴 수 있습니다.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "LiferaOmics", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acute-hepatic-failure", "name": "Acute liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/acute-hepatic-failure" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "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": "frequent", "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "distal-lower-limb-muscle-weakness", "name": "Distal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "generalized-limb-muscle-atrophy", "name": "Generalized muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-limb-muscle-atrophy" }, { "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": "hepatic-bridging-fibrosis", "name": "Hepatic bridging fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatic-bridging-fibrosis" }, { "slug": "hepatic-fibrosis", "name": "Hepatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-fibrosis" }, { "slug": "impaired-pain-sensation", "name": "Impaired pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-pain-sensation" }, { "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": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/splenomegaly" }, { "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": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "somatic-sensory-dysfunction", "name": "Somatic sensory dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction" }, { "slug": "stuttering", "name": "Stuttering", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stuttering" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "dysmetric-saccades", "name": "Uncoordinated eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetric-saccades" }, { "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": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/ahi1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/ko/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 1, "url": "https://dantelabs.com/ko/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 1, "url": "https://dantelabs.com/ko/genes/atg7" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp8a2" }, { "slug": "ca8", "symbol": "CA8", "name": "carbonic anhydrase 8 (inactive)", "shared": 1, "url": "https://dantelabs.com/ko/genes/ca8" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/ko/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 1, "url": "https://dantelabs.com/ko/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 1, "url": "https://dantelabs.com/ko/genes/cep41" }, { "slug": "coa7", "symbol": "COA7", "name": "cytochrome c oxidase assembly factor 7", "shared": 1, "url": "https://dantelabs.com/ko/genes/coa7" }, { "slug": "coq8a", "symbol": "COQ8A", "name": "coenzyme Q8A", "shared": 1, "url": "https://dantelabs.com/ko/genes/coq8a" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/cspp1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }