{ "url": "https://dantelabs.com/ro/genes/dnm2", "gene": { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "hgnc": "HGNC:2974", "summary": null, "location": "19p13.2", "locusType": "gene with protein product", "aliases": [ "DYNII", "DYN2", "CMTDIB", "CMTDI1", "DI-CMTB", "CMT2M" ], "previousSymbols": [], "ensemblId": "ENSG00000079805", "entrezId": 1785, "omim": [ "602378" ], "uniprot": [ "P50570" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 10718079, "end": 10831903, "strand": "+", "ensemblTranscript": "ENST00000389253.9", "refseqTranscript": "NM_001005361.3", "ensemblProtein": "ENSP00000373905.4", "refseqProtein": "NP_001005361.1", "exons": [ { "start": 10718079, "end": 10718403 }, { "start": 10759738, "end": 10759811 }, { "start": 10772479, "end": 10772628 }, { "start": 10775703, "end": 10775906 }, { "start": 10777118, "end": 10777216 }, { "start": 10782960, "end": 10783120 }, { "start": 10786564, "end": 10786706 }, { "start": 10793720, "end": 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"protein_coding", "start": 10286946, "end": 10288522, "strand": "+", "slug": "icam4" }, { "symbol": "ICAM5", "ensemblId": "ENSG00000105376", "biotype": "protein_coding", "start": 10289940, "end": 10296778, "strand": "+", "slug": "icam5" }, { "symbol": "ZGLP1", "ensemblId": "ENSG00000220201", "biotype": "protein_coding", "start": 10304803, "end": 10309880, "strand": "-", "slug": "zglp1" }, { "symbol": "FDX2-ZGLP1", "ensemblId": "ENSG00000167807", "biotype": "protein_coding", "start": 10305427, "end": 10316009, "strand": "-", "slug": "fdx2-zglp1" }, { "symbol": "FDX2", "ensemblId": "ENSG00000267673", "biotype": "protein_coding", "start": 10309898, "end": 10316026, "strand": "-", "slug": "fdx2" }, { "symbol": "", "ensemblId": "ENSG00000267303", "biotype": "protein_coding", "start": 10315471, "end": 10320678, "strand": "-" }, { "symbol": "RAVER1", "ensemblId": "ENSG00000161847", "biotype": "protein_coding", "start": 10316212, "end": 10333548, "strand": "-", "slug": "raver1" }, { "symbol": "ICAM3", "ensemblId": "ENSG00000076662", "biotype": "protein_coding", "start": 10333776, "end": 10339847, "strand": "-", "slug": "icam3" }, { "symbol": "TYK2", "ensemblId": "ENSG00000105397", "biotype": "protein_coding", "start": 10350528, "end": 10380608, "strand": "-", "slug": "tyk2" }, { "symbol": "CDC37", "ensemblId": "ENSG00000105401", "biotype": "protein_coding", "start": 10391090, "end": 10420224, "strand": "-", "slug": "cdc37" }, { "symbol": "PDE4A", "ensemblId": "ENSG00000065989", "biotype": "protein_coding", "start": 10416773, "end": 10469816, "strand": "+", "slug": "pde4a" }, { "symbol": "KEAP1", "ensemblId": "ENSG00000079999", "biotype": "protein_coding", "start": 10484512, "end": 10503558, "strand": "-", "slug": "keap1" }, { "symbol": "S1PR5", "ensemblId": "ENSG00000180739", "biotype": "protein_coding", "start": 10512742, "end": 10517981, "strand": "-", "slug": "s1pr5" }, { "symbol": "ATG4D", "ensemblId": "ENSG00000130734", "biotype": "protein_coding", "start": 10543533, "end": 10553556, "strand": "+", "slug": "atg4d" }, { "symbol": "KRI1", "ensemblId": "ENSG00000129347", "biotype": "protein_coding", "start": 10553085, "end": 10566031, "strand": "-", "slug": "kri1" }, { "symbol": "CDKN2D", "ensemblId": "ENSG00000129355", "biotype": "protein_coding", "start": 10566460, "end": 10569059, "strand": "-", "slug": "cdkn2d" }, { "symbol": "AP1M2", "ensemblId": "ENSG00000129354", "biotype": "protein_coding", "start": 10569431, "end": 10587317, "strand": "-", "slug": "ap1m2" }, { "symbol": "SLC44A2", "ensemblId": "ENSG00000129353", "biotype": "protein_coding", "start": 10602457, "end": 10644559, "strand": "+", "slug": "slc44a2" }, { "symbol": "ILF3", "ensemblId": "ENSG00000129351", "biotype": "protein_coding", "start": 10654261, "end": 10692415, "strand": "+", "slug": "ilf3" }, { "symbol": "QTRT1", "ensemblId": "ENSG00000213339", "biotype": "protein_coding", "start": 10701430, "end": 10713747, "strand": "+", "slug": "qtrt1" }, { "symbol": "TMED1", "ensemblId": "ENSG00000099203", "biotype": "protein_coding", "start": 10832067, "end": 10836330, "strand": "-", "slug": "tmed1" }, { "symbol": "C19orf38", "ensemblId": "ENSG00000214212", "biotype": "protein_coding", "start": 10836567, "end": 10869796, "strand": "+", "slug": "c19orf38" }, { "symbol": "CARM1", "ensemblId": "ENSG00000142453", "biotype": "protein_coding", "start": 10871447, "end": 10923081, "strand": "+", "slug": "carm1" }, { "symbol": "YIPF2", "ensemblId": "ENSG00000130733", "biotype": "protein_coding", "start": 10918919, "end": 10928704, "strand": "-", "slug": "yipf2" }, { "symbol": "TIMM29", "ensemblId": "ENSG00000142444", "biotype": "protein_coding", "start": 10928716, "end": 10933535, "strand": "+", "slug": "timm29" }, { "symbol": "SMARCA4", "ensemblId": "ENSG00000127616", "biotype": "protein_coding", "start": 10960824, "end": 11079426, "strand": "+", "slug": "smarca4" }, { "symbol": "LDLR", "ensemblId": "ENSG00000130164", "biotype": "protein_coding", "start": 11089418, "end": 11133830, "strand": "+", "slug": "ldlr" }, { "symbol": "SPC24", "ensemblId": "ENSG00000161888", "biotype": "protein_coding", "start": 11131419, "end": 11155815, "strand": "-", "slug": "spc24" }, { "symbol": "KANK2", "ensemblId": "ENSG00000197256", "biotype": "protein_coding", "start": 11164264, "end": 11197945, "strand": "-", "slug": "kank2" }, { "symbol": "DOCK6", "ensemblId": "ENSG00000130158", "biotype": "protein_coding", "start": 11199295, "end": 11262533, "strand": "-", "slug": "dock6" }, { "symbol": "ANGPTL8", "ensemblId": "ENSG00000130173", "biotype": "protein_coding", "start": 11237502, "end": 11245478, "strand": "+", "slug": "angptl8" } ], "truncated": false }, "reports": [ { "slug": "congenital-myopathies", "name": "Miopatii congenitale", "diseases": [ { "mondoId": "MONDO:0018947", "name": "Miopatie centronucleară (inclusiv miopatia miotubulară legată de cromozomul X)", "genes": 5, "inheritance": null, "description": "Miopatii congenitale cu nuclee situate central în fibrele musculare, cauzate de MTM1, DNM2, BIN1 și alte gene; forma miotubulară legată de cromozomul X (MTM1) este adesea severă la băieți.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/congenital-myopathies" }, { "slug": "charcot-marie-tooth-disease-type-1", "name": "Boala Charcot-Marie-Tooth", "diseases": [ { "mondoId": "MONDO:0015626", "name": "Boala Charcot-Marie-Tooth", "genes": 62, "inheritance": null, "description": "Un grup de neuropatii periferice ereditare care provoacă slăbiciune progresivă și atrofierea mușchilor distali, precum și pierderea sensibilității, mai ales la nivelul picioarelor și al mâinilor.", "management": "Consiliere genetică, monitorizare specifică subtipului, kinetoterapie, ortezare, evitarea medicamentelor neurotoxice, studii clinice specifice genelor, supraveghere pentru manifestările asociate", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ], "actionability": 9 }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/charcot-marie-tooth-disease-type-1" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-the-foot-musculature", "name": "Abnormal foot muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-foot-musculature" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "areflexia-of-lower-limbs", "name": "Areflexia of lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs" }, { "slug": "axonal-degeneration", "name": "Axonal degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/axonal-degeneration" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "macrocephaly-at-birth", "name": "Big head present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macrocephaly-at-birth" }, { "slug": "large-for-gestational-age", "name": "Birth weight > 90th percentile", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/large-for-gestational-age" }, { "slug": "centrally-nucleated-skeletal-muscle-fibers", "name": "Centrally nucleated skeletal muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers" }, { "slug": "cavernous-hemangioma", "name": "Collection of dilated blood vessels that forms mass", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cavernous-hemangioma" }, { "slug": "congenital-contracture", "name": "Congenital contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/congenital-contracture" }, { "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": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "decreased-nerve-conduction-velocity", "name": "Decreased nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity" }, { "slug": "decreased-number-of-peripheral-myelinated-nerve-fibers", "name": "Decreased number of peripheral myelinated nerve fibers", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/decreased-number-of-peripheral-myelinated-nerve-fibers" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "distal-lower-limb-muscle-weakness", "name": "Distal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "eeg-with-burst-suppression", "name": "EEG with burst suppression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-with-burst-suppression" }, { "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": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "emg-myotonic-discharges", "name": "EMG: myotonic discharges", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/emg-myotonic-discharges" }, { "slug": "emg-positive-sharp-waves", "name": "EMG: positive sharp waves", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/emg-positive-sharp-waves" }, { "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-myalgia", "name": "Exercise-induced muscle pain", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exercise-induced-myalgia" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "calf-muscle-hypertrophy", "name": "Increased size of calf muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "malignant-hyperthermia", "name": "Malignant hyperthermia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/malignant-hyperthermia" }, { "slug": "mildly-elevated-creatine-kinase", "name": "Mildly elevated creatine kinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "neck-muscle-weakness", "name": "Neck muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neck-muscle-weakness" }, { "slug": "neonatal-asphyxia", "name": "Neonatal asphyxia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-asphyxia" }, { "slug": "onion-bulb-formation", "name": "Onion bulb formation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/onion-bulb-formation" }, { "slug": "external-ophthalmoplegia", "name": "Paralysis or weakness of muscles within or surrounding outer part of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/external-ophthalmoplegia" }, { "slug": "peripheral-axonal-degeneration", "name": "Peripheral axonal degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-axonal-degeneration" }, { "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": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "proximal-lower-limb-muscle-weakness", "name": "Proximal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "proximal-upper-limb-amyotrophy", "name": "Proximal upper limb amyotrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-upper-limb-amyotrophy" }, { "slug": "proximal-upper-limb-muscle-weakness", "name": "Proximal upper limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness" }, { "slug": "pyloric-stenosis", "name": "Pyloric stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pyloric-stenosis" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "retinal-hemorrhage", "name": "Retinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/retinal-hemorrhage" }, { "slug": "segmental-peripheral-demyelination", "name": "Segmental peripheral demyelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/segmental-peripheral-demyelination" }, { "slug": "segmental-peripheral-demyelination-remyelination", "name": "Segmental peripheral demyelination/remyelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/segmental-peripheral-demyelination-remyelination" }, { "slug": "achilles-tendon-contracture", "name": "Shortening of the achilles tendon", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/achilles-tendon-contracture" }, { "slug": "sleepy-facial-expression", "name": "Sleepy facial expression", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/sleepy-facial-expression" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "subdural-hemorrhage", "name": "Subdural hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/subdural-hemorrhage" }, { "slug": "thin-ribs", "name": "Thin ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-ribs" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/easy-fatigability" }, { "slug": "muscle-fibrillation", "name": "Twitching", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-fibrillation" }, { "slug": "type-1-muscle-fiber-predominance", "name": "Type 1 muscle fiber predominance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "proximal-amyotrophy", "name": "Wasting of muscles near the body", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-amyotrophy" }, { "slug": "weakness-of-facial-musculature", "name": "Weakness of facial musculature", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weakness-of-facial-musculature" }, { "slug": "ophthalmoparesis", "name": "Weakness of muscles controlling eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoparesis" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aars1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aifm1" }, { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/atp1a1" }, { "slug": "bin1", "symbol": "BIN1", "name": "bridging integrator 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/bin1" }, { "slug": "cadm3", "symbol": "CADM3", "name": "cell adhesion molecule 3", "shared": 1, "url": "https://dantelabs.com/ro/genes/cadm3" }, { "slug": "cox6a1", "symbol": "COX6A1", "name": "cytochrome c oxidase subunit 6A1", "shared": 1, "url": "https://dantelabs.com/ro/genes/cox6a1" }, { "slug": "dhtkd1", "symbol": "DHTKD1", "name": "dehydrogenase E1 and transketolase domain containing 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/dhtkd1" }, { "slug": "dhx9", "symbol": "DHX9", "name": "DExH-box helicase 9", "shared": 1, "url": "https://dantelabs.com/ro/genes/dhx9" }, { "slug": "drp2", "symbol": "DRP2", "name": "dystrophin related protein 2", "shared": 1, "url": "https://dantelabs.com/ro/genes/drp2" }, { "slug": "dync1h1", "symbol": "DYNC1H1", "name": "dynein cytoplasmic 1 heavy chain 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/dync1h1" }, { "slug": "egr2", "symbol": "EGR2", "name": "early growth response 2", "shared": 1, "url": "https://dantelabs.com/ro/genes/egr2" }, { "slug": "fbln5", "symbol": "FBLN5", "name": "fibulin 5", "shared": 1, "url": "https://dantelabs.com/ro/genes/fbln5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 12, "url": "https://dantelabs.com/genes/dnm2/variants", 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"R523G", "commonName": null, "symbol": "DNM2", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1567A>G", "position": 10812273, "grch37Position": 10922949, "part": { "kind": "exon", "number": 15 }, "url": "https://dantelabs.com/genes/dnm2/variants/r523g" }, { "slug": "s619l", "name": "S619L", "commonName": null, "symbol": "DNM2", "classification": "pathogenic", "stars": 3, "hgvsC": "c.1856C>T", "position": 10823862, "grch37Position": 10934538, "part": { "kind": "exon", "number": 17 }, "url": "https://dantelabs.com/genes/dnm2/variants/s619l" } ] } }