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{ "symbol": "TCAF2", "ensemblId": "ENSG00000170379", "biotype": "protein_coding", "start": 143620952, "end": 143732460, "strand": "+", "slug": "tcaf2" }, { "symbol": "TCAF2C", "ensemblId": "ENSG00000283528", "biotype": "protein_coding", "start": 143639230, "end": 143647646, "strand": "-", "slug": "tcaf2c" }, { "symbol": "CTAGE6", "ensemblId": "ENSG00000271321", "biotype": "protein_coding", "start": 143755089, "end": 143757696, "strand": "-", "slug": "ctage6" } ], "truncated": false }, "reports": [ { "slug": "dystonia-myotonia-paroxysmal-dyskinesia", "name": "Distonía, miotonía y discinesia paroxística", "diseases": [ { "mondoId": "MONDO:0009710", "name": "Enfermedad de Thomsen y de Becker", "genes": 1, "inheritance": null, "description": "Canalopatía genética y poco frecuente del músculo esquelético, caracterizada por una relajación muscular lenta tras la contracción (miotonía).", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/es/conditions/dystonia-myotonia-paroxysmal-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "cardiac-conduction-abnormality", "name": "Cardiac conduction abnormality", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cardiac-conduction-abnormality" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clumsiness" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "emg-myotonic-discharges", "name": "EMG: myotonic discharges", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/emg-myotonic-discharges" }, { "slug": "emg-myotonic-runs", "name": "EMG: myotonic runs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/emg-myotonic-runs" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "handgrip-myotonia", "name": "Handgrip myotonia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/handgrip-myotonia" }, { "slug": "skeletal-muscle-hypertrophy", "name": "Increased skeletal muscle cells", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-hypertrophy" }, { "slug": "lid-lag-on-downgaze", "name": "Lid lag on downgaze", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lid-lag-on-downgaze" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "muscle-hypertrophy-of-the-lower-extremities", "name": "Muscle hypertrophy of the lower extremities", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-hypertrophy-of-the-lower-extremities" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "muscle-stiffness", "name": "Muscle stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-stiffness" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "myotonia", "name": "Myotonia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myotonia" }, { "slug": "myotonia-with-warm-up-phenomenon", "name": "Myotonia with warm-up phenomenon", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myotonia-with-warm-up-phenomenon" }, { "slug": "percussion-myotonia", "name": "Percussion myotonia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/percussion-myotonia" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-distal-muscle-weakness", "name": "Progressive distal muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-distal-muscle-weakness" } ], "related": [], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }