{ "url": "https://dantelabs.com/es/genes/elovl5", "gene": { "slug": "elovl5", "symbol": "ELOVL5", "name": "ELOVL fatty acid elongase 5", "hgnc": "HGNC:21308", "summary": null, "location": "6p12.1", "locusType": "gene with protein product", "aliases": [ "HELO1", "dJ483K16.1" ], "previousSymbols": [ "SCA38" ], "ensemblId": "ENSG00000012660", "entrezId": 60481, "omim": [ "611805" ], "uniprot": [ "Q9NYP7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "6", "start": 53267404, "end": 53348950, "strand": "-", "ensemblTranscript": "ENST00000304434.11", "refseqTranscript": "NM_021814.5", "ensemblProtein": "ENSP00000306640.6", "refseqProtein": "NP_068586.1", "exons": [ { "start": 53267404, "end": 53269270 }, { "start": 53270593, "end": 53270727 }, { "start": 53273220, "end": 53273344 }, { "start": 53275090, "end": 53275261 }, { "start": 53276179, "end": 53276256 }, { "start": 53291776, "end": 53291963 }, { "start": 53295642, "end": 53295707 }, { "start": 53348817, "end": 53348950 } ], "cds": { "start": 53269127, "end": 53295699 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "6", "start": 53132196, "end": 53213947, "strand": "-" }, "neighbourhood": { "release": "116", "start": 52808177, "end": 53808176, "genes": [ { "symbol": "GSTA5", "ensemblId": "ENSG00000182793", "biotype": "protein_coding", "start": 52831655, "end": 52840843, "strand": "-", "slug": "gsta5" }, { "symbol": "GSTA3", "ensemblId": "ENSG00000174156", "biotype": "protein_coding", "start": 52896639, "end": 52909701, "strand": "-", "slug": "gsta3" }, { "symbol": "GSTA4", "ensemblId": "ENSG00000170899", "biotype": "protein_coding", "start": 52977948, "end": 52995359, "strand": "-", "slug": "gsta4" }, { "symbol": "CILK1", "ensemblId": "ENSG00000112144", "biotype": "protein_coding", "start": 53001279, "end": 53061896, "strand": "-", "slug": "cilk1" }, { "symbol": "", "ensemblId": "ENSG00000288614", "biotype": "protein_coding", "start": 53041266, "end": 53041385, "strand": "-" }, { "symbol": "FBXO9", "ensemblId": "ENSG00000112146", "biotype": "protein_coding", "start": 53051991, "end": 53101045, "strand": "+", "slug": "fbxo9" }, { "symbol": "", "ensemblId": "ENSG00000288646", "biotype": "protein_coding", "start": 53065602, "end": 53065673, "strand": "+" }, { "symbol": "GCM1", "ensemblId": "ENSG00000137270", "biotype": "protein_coding", "start": 53126961, "end": 53148841, "strand": "-", "slug": "gcm1" }, { "symbol": "GCLC", "ensemblId": "ENSG00000001084", "biotype": "protein_coding", "start": 53497341, "end": 53616970, "strand": "-", "slug": "gclc" }, { "symbol": "KLHL31", "ensemblId": "ENSG00000124743", "biotype": "protein_coding", "start": 53647916, "end": 53665868, "strand": "-", "slug": "klhl31" }, { "symbol": "LRRC1", "ensemblId": "ENSG00000137269", "biotype": "protein_coding", "start": 53793768, "end": 53924734, "strand": "+", "slug": "lrrc1" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Ataxias cerebelosas autosómicas dominantes (SCA y DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Ataxia cerebelosa autosómica dominante", "genes": 36, "inheritance": "autosomal-dominant", "description": "Grupo de ataxias de herencia dominante, entre ellas SCA1, SCA2, SCA3 (enfermedad de Machado-Joseph), SCA6, SCA7, SCA17, SCA27B y DRPLA, causadas por expansiones de repeticiones o variantes puntuales en genes como ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 y FGF14.", "management": "Asesoramiento genético y pruebas presintomáticas para familiares, fisioterapia y manejo de los síntomas; algunas formas, como SCA27B, pueden responder a un tratamiento farmacológico específico.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/es/conditions/autosomal-dominant-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "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": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "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": "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": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "slow-saccadic-eye-movements", "name": "Slow eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements" }, { "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": "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": "occasional", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/es/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 1, "url": "https://dantelabs.com/es/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/es/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 1, "url": "https://dantelabs.com/es/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 1, "url": "https://dantelabs.com/es/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 1, "url": "https://dantelabs.com/es/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 1, "url": "https://dantelabs.com/es/genes/atxn3" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 1, "url": "https://dantelabs.com/es/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 1, "url": "https://dantelabs.com/es/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 1, "url": "https://dantelabs.com/es/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 1, "url": "https://dantelabs.com/es/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 1, "url": "https://dantelabs.com/es/genes/camta1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }