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"biotype": "protein_coding", "start": 32391481, "end": 32407181, "strand": "-", "slug": "btnl2" }, { "symbol": "HLA-DRA", "ensemblId": "ENSG00000204287", "biotype": "protein_coding", "start": 32439870, "end": 32445181, "strand": "+", "slug": "hla-dra" }, { "symbol": "HLA-DRB5", "ensemblId": "ENSG00000198502", "biotype": "protein_coding", "start": 32516622, "end": 32530369, "strand": "-", "slug": "hla-drb5" } ], "truncated": false }, "reports": [ { "slug": "ehlers-danlos-syndrome", "name": "Síndrome de Ehlers-Danlos", "diseases": [ { "mondoId": "MONDO:0020066", "name": "Síndrome de Ehlers-Danlos", "genes": 20, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/ehlers-danlos-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-foot-morphology", "name": "Abnormal feet structure", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-foot-morphology" }, { "slug": "abnormal-heart-valve-morphology", "name": "Abnormal heart valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology" }, { "slug": "unilateral-renal-agenesis", "name": "Absent kidney on one side", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/unilateral-renal-agenesis" }, { "slug": "ambiguous-genitalia-female", "name": "Atypical appearance of female genitals", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ambiguous-genitalia-female" }, { "slug": "back-pain", "name": "Back pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/back-pain" }, { "slug": "post-partum-hemorrhage", "name": "Bleeding post-delivery", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/post-partum-hemorrhage" }, { "slug": "bowel-diverticulosis", "name": "Bowel diverticulosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bowel-diverticulosis" }, { "slug": "broad-foot", "name": "Broad foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-foot" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "aortic-aneurysm", "name": "Bulge in wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-aneurysm" }, { "slug": "hallux-valgus", "name": "Bunion", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hallux-valgus" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "sensory-neuropathy", "name": "Damage to nerves that sense feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensory-neuropathy" }, { "slug": "dilatation-of-an-abdominal-artery", "name": "Dilatation of an abdominal artery", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-an-abdominal-artery" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "duplicated-collecting-system", "name": "Duplicated collecting system", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/duplicated-collecting-system" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "pedal-edema", "name": "Fluid accumulation in lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pedal-edema" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "hand-muscle-atrophy", "name": "Hand muscle degeneration", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hand-muscle-atrophy" }, { "slug": "bicornuate-uterus", "name": "Heart shaped uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/bicornuate-uterus" }, { "slug": "hyperextensible-skin", "name": "Hyperelastic skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperextensible-skin" }, { "slug": "generalized-joint-hypermobility", "name": "Hypermobility of all joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-joint-hypermobility" }, { "slug": "increased-compartment-pressure", "name": "Increased compartment pressure", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/increased-compartment-pressure" }, { "slug": "increased-connective-tissue", "name": "Increased connective tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-connective-tissue" }, { "slug": "intestinal-perforation", "name": "Intestinal perforation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-perforation" }, { "slug": "arthralgia", "name": "Joint pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arthralgia" }, { "slug": "joint-subluxation", "name": "Joint subluxation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-subluxation" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "mallet-finger", "name": "Mallet finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mallet-finger" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "multiple-joint-dislocation", "name": "Multiple joint dislocation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-joint-dislocation" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-fiber-splitting", "name": "Muscle fiber splitting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-fiber-splitting" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "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": "piezogenic-pedal-papules", "name": "Piezogenic pedal papules", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/piezogenic-pedal-papules" }, { "slug": "poor-wound-healing", "name": "Poor wound healing", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-wound-healing" }, { "slug": "premature-rupture-of-membranes", "name": "Premature rupture of membranes", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/premature-rupture-of-membranes" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "quadricuspid-aortic-valve", "name": "Quadricuspid aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/quadricuspid-aortic-valve" }, { "slug": "rectal-prolapse", "name": "Rectum protrudes through anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rectal-prolapse" }, { "slug": "uterine-prolapse", "name": "Sagging uterus", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/uterine-prolapse" }, { "slug": "short-finger", "name": "Short finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-finger" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-toe", "name": "Short toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-toe" }, { "slug": "soft-skin", "name": "Soft skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/soft-skin" }, { "slug": "spontaneous-esophageal-perforation", "name": "Spontaneous esophageal perforation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spontaneous-esophageal-perforation" }, { "slug": "spontaneous-hematomas", "name": "Spontaneous hematomas", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spontaneous-hematomas" }, { "slug": "hiatus-hernia", "name": "Stomach hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hiatus-hernia" }, { "slug": "striae-distensae", "name": "Stretch marks", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/striae-distensae" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "subconjunctival-hemorrhage", "name": "Subconjunctival hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subconjunctival-hemorrhage" }, { "slug": "thin-skin", "name": "Thin skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-skin" }, { "slug": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" }, { "slug": "proximal-amyotrophy", "name": "Wasting of muscles near the body", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-amyotrophy" } ], "related": [ { "slug": "adamts2", "symbol": "ADAMTS2", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 2", "shared": 1, "url": "https://dantelabs.com/es/genes/adamts2" }, { "slug": "aebp1", "symbol": "AEBP1", "name": "AE binding protein 1", "shared": 1, "url": "https://dantelabs.com/es/genes/aebp1" }, { "slug": "b3galt6", "symbol": "B3GALT6", "name": "beta-1,3-galactosyltransferase 6", "shared": 1, "url": "https://dantelabs.com/es/genes/b3galt6" }, { "slug": "b4galt7", "symbol": "B4GALT7", "name": "beta-1,4-galactosyltransferase 7", "shared": 1, "url": "https://dantelabs.com/es/genes/b4galt7" }, { "slug": "c1r", "symbol": "C1R", "name": "complement C1r", "shared": 1, "url": "https://dantelabs.com/es/genes/c1r" }, { "slug": "c1s", "symbol": "C1S", "name": "complement C1s", "shared": 1, "url": "https://dantelabs.com/es/genes/c1s" }, { "slug": "chst14", "symbol": "CHST14", "name": "carbohydrate sulfotransferase 14", "shared": 1, "url": "https://dantelabs.com/es/genes/chst14" }, { "slug": "col12a1", "symbol": "COL12A1", "name": "collagen type XII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col12a1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col1a2" }, { "slug": "col3a1", "symbol": "COL3A1", "name": "collagen type III alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col3a1" }, { "slug": "col5a1", "symbol": "COL5A1", "name": "collagen type V alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col5a1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }