{ "url": "https://dantelabs.com/genes/dmd", "gene": { "slug": "dmd", "symbol": "DMD", "name": "dystrophin", "hgnc": "HGNC:2928", "summary": null, "location": "Xp21.2-p21.1", "locusType": "gene with protein product", "aliases": [ "BMD", "DXS142", "DXS164", "DXS206", "DXS230", "DXS239", "DXS268", "DXS269", "DXS270", "DXS272" ], "previousSymbols": [ "MRX85" ], "ensemblId": "ENSG00000198947", "entrezId": 1756, "omim": [ "300377" ], "uniprot": [ "P11532" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 31119222, "end": 33211549, "strand": "-", "ensemblTranscript": "ENST00000357033.9", "refseqTranscript": "NM_004006.3", "ensemblProtein": "ENSP00000354923.3", "refseqProtein": "NP_003997.2", "exons": [ { "start": 31119222, "end": 31121930 }, { "start": 31126642, "end": 31126673 }, { "start": 31134102, "end": 31134194 }, { "start": 31146291, "end": 31146414 }, { "start": 31147275, "end": 31147518 }, { "start": 31169443, "end": 31169601 }, { "start": 31172348, "end": 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"X", "start": 31115794, "end": 33357558, "strand": "-" }, "neighbourhood": { "release": "116", "start": 29026894, "end": 35303877, "genes": [ { "symbol": "IL1RAPL1", "ensemblId": "ENSG00000169306", "biotype": "protein_coding", "start": 28587123, "end": 29958600, "strand": "+", "slug": "il1rapl1" }, { "symbol": "MAGEB2", "ensemblId": "ENSG00000099399", "biotype": "protein_coding", "start": 30215552, "end": 30220089, "strand": "+", "slug": "mageb2" }, { "symbol": "MAGEB3", "ensemblId": "ENSG00000198798", "biotype": "protein_coding", "start": 30230657, "end": 30237495, "strand": "+", "slug": "mageb3" }, { "symbol": "MAGEB4", "ensemblId": "ENSG00000120289", "biotype": "protein_coding", "start": 30242000, "end": 30244187, "strand": "+", "slug": "mageb4" }, { "symbol": "MAGEB1", "ensemblId": "ENSG00000214107", "biotype": "protein_coding", "start": 30243715, "end": 30252041, "strand": "+", "slug": "mageb1" }, { "symbol": "NR0B1", "ensemblId": "ENSG00000169297", "biotype": "protein_coding", "start": 30304206, "end": 30309394, "strand": "-", "slug": "nr0b1" }, { "symbol": "TASL", "ensemblId": "ENSG00000120280", "biotype": "protein_coding", "start": 30557703, "end": 30577921, "strand": "-", "slug": "tasl" }, { "symbol": "GK", "ensemblId": "ENSG00000198814", "biotype": "protein_coding", "start": 30653336, "end": 30733182, "strand": "+", "slug": "gk" }, { "symbol": "TAB3", "ensemblId": "ENSG00000157625", "biotype": "protein_coding", "start": 30827442, "end": 30975084, "strand": "-", "slug": "tab3" }, { "symbol": "FTHL17", "ensemblId": "ENSG00000132446", "biotype": "protein_coding", "start": 31071233, "end": 31072041, "strand": "-", "slug": "fthl17" }, { "symbol": "FAM47A", "ensemblId": "ENSG00000185448", "biotype": "protein_coding", "start": 34129752, "end": 34132314, "strand": "-", "slug": "fam47a" }, { "symbol": "TMEM47", "ensemblId": "ENSG00000147027", "biotype": "protein_coding", "start": 34627075, "end": 34657333, "strand": "-", "slug": "tmem47" }, { "symbol": "FAM47B", "ensemblId": "ENSG00000189132", "biotype": "protein_coding", "start": 34942796, "end": 34944915, "strand": "+", "slug": "fam47b" } ], "truncated": false }, "reports": [ { "slug": "dilated-cardiomyopathy", "name": "Dilated Cardiomyopathy", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Dilated Cardiomyopathy", "genes": 50, "inheritance": null, "description": "Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.", "management": "Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.", "evidence": { "gencc": [ "Ambry Genetics", "Natera" ], "acmgSf": false, "inheritance": [ "x-linked-recessive" ], "actionability": 11 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/conditions/dilated-cardiomyopathy" }, { "slug": "duchenne-muscular-dystrophy", "name": "Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)", "diseases": [ { "mondoId": "MONDO:0010679", "name": "Duchenne Muscular Dystrophy", "genes": 1, "inheritance": "x-linked-recessive", "description": "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.", "management": "Corticosteroids (deflazacort, prednisone); exon-skipping antisense oligonucleotides (eteplirsen, golodirsen, viltolarsen, casimersen); ataluren for nonsense variants; micro-dystrophin gene therapy (delandistrogene moxeparvovec); cardiac and respiratory management", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera" ], "acmgSf": false, "inheritance": [ "x-linked-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0010311", "name": "Becker muscular dystrophy", "genes": 1, "inheritance": "x-linked-recessive", "description": "A milder, later-onset dystrophinopathy caused by DMD variants that leave some functional dystrophin, with progressive limb weakness and a high risk of heart muscle disease.", "management": null, "evidence": { "gencc": [ "Ambry Genetics" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/duchenne-muscular-dystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-ekg", "name": "Abnormal EKG", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/abnormal-ekg" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormal-urinary-color", "name": "Abnormal urinary color", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-urinary-color" }, { "slug": "abnormality-of-the-lower-limb", "name": "Abnormality of the lower limb", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-lower-limb" }, { "slug": "abnormality-of-the-shoulder-girdle-musculature", "name": "Abnormality of the shoulder girdle musculature", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-shoulder-girdle-musculature" }, { "slug": "absent-muscle-dystrophin-expression", "name": "Absent muscle dystrophin expression", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-muscle-dystrophin-expression" }, { "slug": "calf-muscle-pseudohypertrophy", "name": "Calf muscle pseudohypertrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/calf-muscle-pseudohypertrophy" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "respiratory-insufficiency-due-to-muscle-weakness", "name": "Decreased lung function due to weak breathing muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "distal-sensory-impairment-of-all-modalities", "name": "Distal sensory impairment of all modalities", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/distal-sensory-impairment-of-all-modalities" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "elbow-flexion-contracture", "name": "Elbow flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/elbow-flexion-contracture" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "elevated-circulating-ck-mb-concentration", "name": "Elevated circulating CK-MB concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-ck-mb-concentration" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "exercise-induced-muscle-cramps", "name": "Exercise-induced muscle cramps", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exercise-induced-muscle-cramps" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "falls", "name": "Falls", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/falls" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "generalized-muscle-weakness", "name": "Generalized muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "gowers-sign", "name": "Gowers sign", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/gowers-sign" }, { "slug": "hamstring-contractures", "name": "Hamstring contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hamstring-contractures" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "knee-flexion-contracture", "name": "Inability to straighten knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/knee-flexion-contracture" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "increased-left-ventricular-end-diastolic-volume", "name": "Increased left ventricular end-diastolic volume", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-left-ventricular-end-diastolic-volume" }, { "slug": "calf-muscle-hypertrophy", "name": "Increased size of calf muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "left-ventricular-systolic-dysfunction", "name": "Left ventricular systolic dysfunction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "lipoatrophy", "name": "Loss of fat tissue in localized area", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipoatrophy" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/fasciculations" }, { "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": "myoglobinuria", "name": "Myoglobinuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myoglobinuria" }, { "slug": "obstructive-sleep-apnea", "name": "Obstructive sleep apnea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/obstructive-sleep-apnea" }, { "slug": "orthopnea", "name": "Orthopnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orthopnea" }, { "slug": "progressive-muscle-weakness", "name": "Progressive muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-muscle-weakness" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "quadriceps-muscle-weakness", "name": "Quadriceps weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/quadriceps-muscle-weakness" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "achilles-tendon-contracture", "name": "Shortening of the achilles tendon", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/achilles-tendon-contracture" }, { "slug": "hypoventilation", "name": "Slow breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/hypoventilation" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "thoracic-kyphosis", "name": "Thoracic kyphosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thoracic-kyphosis" }, { "slug": "thoracic-scoliosis", "name": "Thoracic scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thoracic-scoliosis" }, { "slug": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolic-stroke" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/waddling-gait" } ], "related": [ { "slug": "abcc9", "symbol": "ABCC9", "name": "ATP binding cassette subfamily C member 9", "shared": 1, "url": "https://dantelabs.com/genes/abcc9" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/genes/actc1" }, { "slug": "bag3", "symbol": "BAG3", "name": "BAG cochaperone 3", "shared": 1, "url": "https://dantelabs.com/genes/bag3" }, { "slug": "bag5", "symbol": "BAG5", "name": "BAG cochaperone 5", "shared": 1, "url": "https://dantelabs.com/genes/bag5" }, { "slug": "des", "symbol": "DES", "name": "desmin", "shared": 1, "url": "https://dantelabs.com/genes/des" }, { "slug": "dolk", "symbol": "DOLK", "name": "dolichol kinase", "shared": 1, "url": "https://dantelabs.com/genes/dolk" }, { "slug": "emd", "symbol": "EMD", "name": "emerin", "shared": 1, "url": "https://dantelabs.com/genes/emd" }, { "slug": "fhl1", "symbol": "FHL1", "name": "four and a half LIM domains 1", "shared": 1, "url": "https://dantelabs.com/genes/fhl1" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 1, "url": "https://dantelabs.com/genes/fktn" }, { "slug": "flii", "symbol": "FLII", "name": "FLII actin remodeling protein", "shared": 1, "url": "https://dantelabs.com/genes/flii" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 1, "url": "https://dantelabs.com/genes/flnc" }, { "slug": "jph2", "symbol": "JPH2", "name": "junctophilin 2", "shared": 1, "url": "https://dantelabs.com/genes/jph2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }