{ "url": "https://dantelabs.com/es/genes/tor1aip1", "gene": { "slug": "tor1aip1", "symbol": "TOR1AIP1", "name": "torsin 1A interacting protein 1", "hgnc": "HGNC:29456", "summary": null, "location": "1q25.2", "locusType": "gene with protein product", "aliases": [ "LAP1B", "FLJ13142", "LAP1", "LAP1C" ], "previousSymbols": [], "ensemblId": "ENSG00000143337", "entrezId": 26092, "omim": [ "614512" ], "uniprot": [ "Q5JTV8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 179882285, "end": 179920076, "strand": "+", "ensemblTranscript": "ENST00000606911.7", "refseqTranscript": "NM_015602.4", "ensemblProtein": "ENSP00000476687.1", "refseqProtein": "NP_056417.2", "exons": [ { "start": 179882285, "end": 179882977 }, { "start": 179884692, "end": 179884769 }, { "start": 179889313, "end": 179889369 }, { "start": 179900126, "end": 179900167 }, { "start": 179901302, "end": 179901388 }, { "start": 179903966, "end": 179904022 }, { "start": 179907823, "end": 179907864 }, { "start": 179908605, "end": 179908673 }, { "start": 179913998, "end": 179914054 }, { "start": 179917452, "end": 179920076 } ], "cds": { "start": 179882503, "end": 179918239 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 179851177, "end": 179894135, "strand": "+" }, "neighbourhood": { "release": "116", "start": 179401181, "end": 180401180, "genes": [ { "symbol": "AXDND1", "ensemblId": "ENSG00000162779", "biotype": "protein_coding", "start": 179365720, "end": 179554735, "strand": "+", "slug": "axdnd1" }, { "symbol": "NPHS2", "ensemblId": "ENSG00000116218", "biotype": "protein_coding", "start": 179550494, "end": 179575954, "strand": "-", "slug": "nphs2" }, { "symbol": "TDRD5", "ensemblId": "ENSG00000162782", "biotype": "protein_coding", "start": 179591613, "end": 179691272, "strand": "+", "slug": "tdrd5" }, { "symbol": "FAM163A", "ensemblId": "ENSG00000143340", "biotype": "protein_coding", "start": 179742877, "end": 179817055, "strand": "+", "slug": "fam163a" }, { "symbol": "TOR1AIP2", "ensemblId": "ENSG00000169905", "biotype": "protein_coding", "start": 179839967, "end": 179883034, "strand": "-", "slug": "tor1aip2" }, { "symbol": "", "ensemblId": "ENSG00000293564", "biotype": "protein_coding", "start": 179882316, "end": 179882393, "strand": "+" }, { "symbol": "CEP350", "ensemblId": "ENSG00000135837", "biotype": "protein_coding", "start": 179954674, "end": 180114880, "strand": "+", "slug": "cep350" }, { "symbol": "QSOX1", "ensemblId": "ENSG00000116260", "biotype": "protein_coding", "start": 180154806, "end": 180204030, "strand": "+", "slug": "qsox1" }, { "symbol": "LHX4", "ensemblId": "ENSG00000121454", "biotype": "protein_coding", "start": 180228787, "end": 180278984, "strand": "+", "slug": "lhx4" }, { "symbol": "ACBD6", "ensemblId": "ENSG00000230124", "biotype": "protein_coding", "start": 180269653, "end": 180502954, "strand": "-", "slug": "acbd6" } ], "truncated": false }, "reports": [ { "slug": "limb-girdle-muscular-dystrophy", "name": "Distrofia muscular de cinturas", "diseases": [ { "mondoId": "MONDO:0016971", "name": "Distrofia muscular de cinturas", "genes": 33, "inheritance": null, "description": "La distrofia muscular de cinturas comprende un conjunto de numerosos subtipos con diferentes patrones de herencia (cuya validez diagnóstica también varía). Se recomienda a las personas portadoras de variantes relacionadas con esta afección que consulten a un especialista musculoesquelético para obtener un diagnóstico definitivo.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/limb-girdle-muscular-dystrophy" }, { "slug": "tor1aip1-related-multisystem-disorder", "name": "Trastorno multisistémico relacionado con TOR1AIP1", "diseases": [ { "mondoId": "MONDO:0100591", "name": "Trastorno multisistémico relacionado con TOR1AIP1", "genes": 1, "inheritance": "autosomal-recessive", "description": "Causado por alteraciones en ambas copias de TOR1AIP1, que codifica LAP1, una proteína de la membrana nuclear interna. La pérdida completa provoca un trastorno multisistémico grave de inicio temprano, mientras que las alteraciones más leves pueden dar lugar a una forma que afecta principalmente a los músculos.", "management": "Revisiones periódicas del corazón, los ojos y la audición, junto con fisioterapia y atención ortopédica. Están disponibles el estudio de portadores en familiares y el asesoramiento genético.", "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/tor1aip1-related-multisystem-disorder" }, { "slug": "tor1aip1-related-myopathy", "name": "Miopatía relacionada con TOR1AIP1", "diseases": [ { "mondoId": "MONDO:0100582", "name": "Miopatía relacionada con TOR1AIP1", "genes": 1, "inheritance": "autosomal-recessive", "description": "Causada por alteraciones en las dos copias de TOR1AIP1, que produce la polipéptido 1 asociado a la lámina (LAP1), una proteína de la envoltura nuclear que interactúa con las laminas y con la torsinA.", "management": "Revisiones periódicas del corazón y de la respiración, ya que pueden desarrollarse complicaciones cardíacas y respiratorias; fisioterapia y atención ortopédica para las contracturas. El asesoramiento genético explica la herencia recesiva, y hay pruebas de portador disponibles para los familiares.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/tor1aip1-related-myopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ankle-flexion-contracture", "name": "Ankle flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-flexion-contracture" }, { "slug": "centrally-nucleated-skeletal-muscle-fibers", "name": "Centrally nucleated skeletal muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers" }, { "slug": "contracture-of-the-distal-interphalangeal-joint-of-the-fingers", "name": "Contracture of the distal interphalangeal joint of the fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/contracture-of-the-distal-interphalangeal-joint-of-the-fingers" }, { "slug": "decreased-forced-expiratory-flow-25-75", "name": "Decreased forced expiratory flow 25-75%", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-forced-expiratory-flow-25-75" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "premature-ventricular-contraction", "name": "Extra heart beat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-ventricular-contraction" }, { "slug": "increased-endomysial-connective-tissue", "name": "Increased endomysial connective tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "interosseus-muscle-atrophy", "name": "Interosseus muscle atrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/interosseus-muscle-atrophy" }, { "slug": "joint-contracture", "name": "Joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-contracture" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "muscular-dystrophy", "name": "Muscular dystrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscular-dystrophy" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "spinal-rigidity", "name": "Reduced spine movement", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spinal-rigidity" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/es/genes/ano5" }, { "slug": "capn3", "symbol": "CAPN3", "name": "calpain 3", "shared": 1, "url": "https://dantelabs.com/es/genes/capn3" }, { "slug": "col6a1", "symbol": "COL6A1", "name": "collagen type VI alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col6a1" }, { "slug": "col6a2", "symbol": "COL6A2", "name": "collagen type VI alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col6a2" }, { "slug": "col6a3", "symbol": "COL6A3", "name": "collagen type VI alpha 3 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col6a3" }, { "slug": "dag1", "symbol": "DAG1", "name": "dystroglycan 1", "shared": 1, "url": "https://dantelabs.com/es/genes/dag1" }, { "slug": "dnajb6", "symbol": "DNAJB6", "name": "DnaJ heat shock protein family (Hsp40) member B6", "shared": 1, "url": "https://dantelabs.com/es/genes/dnajb6" }, { "slug": "dysf", "symbol": "DYSF", "name": "dysferlin", "shared": 1, "url": "https://dantelabs.com/es/genes/dysf" }, { "slug": "fkrp", "symbol": "FKRP", "name": "fukutin related protein", "shared": 1, "url": "https://dantelabs.com/es/genes/fkrp" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 1, "url": "https://dantelabs.com/es/genes/fktn" }, { "slug": "gmppb", "symbol": "GMPPB", "name": "GDP-mannose pyrophosphorylase B", "shared": 1, "url": "https://dantelabs.com/es/genes/gmppb" }, { "slug": "hmgcr", "symbol": "HMGCR", "name": "3-hydroxy-3-methylglutaryl-CoA reductase", "shared": 1, "url": "https://dantelabs.com/es/genes/hmgcr" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }