{ "url": "https://dantelabs.com/da/genes/tnnt1", "gene": { "slug": "tnnt1", "symbol": "TNNT1", "name": "troponin T1, slow skeletal type", "hgnc": "HGNC:11948", "summary": null, "location": "19q13.42", "locusType": "gene with protein product", "aliases": [ "ANM", "STNT", "TNT", "TNTS", "FLJ98147", "MGC104241", "NEM5" ], "previousSymbols": [], "ensemblId": "ENSG00000105048", "entrezId": 7138, "omim": [ "191041" ], "uniprot": [ "P13805" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 55132698, "end": 55149206, "strand": "-", "ensemblTranscript": "ENST00000588981.6", "refseqTranscript": "NM_003283.6", "ensemblProtein": "ENSP00000467176.1", "refseqProtein": "NP_003274.3", "exons": [ { "start": 55132698, "end": 55132960 }, { "start": 55133887, "end": 55133927 }, { "start": 55134066, "end": 55134204 }, { "start": 55137103, "end": 55137212 }, { "start": 55137961, "end": 55138074 }, { "start": 55140883, "end": 55140960 }, { "start": 55141186, "end": 55141302 }, { 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55452900, "strand": "-", "slug": "shisa7" }, { "symbol": "ISOC2", "ensemblId": "ENSG00000063241", "biotype": "protein_coding", "start": 55452975, "end": 55462343, "strand": "-", "slug": "isoc2" }, { "symbol": "C19orf85", "ensemblId": "ENSG00000283567", "biotype": "protein_coding", "start": 55463001, "end": 55464752, "strand": "-", "slug": "c19orf85" }, { "symbol": "ZNF628", "ensemblId": "ENSG00000197483", "biotype": "protein_coding", "start": 55476597, "end": 55484487, "strand": "+", "slug": "znf628" }, { "symbol": "NAT14", "ensemblId": "ENSG00000090971", "biotype": "protein_coding", "start": 55484949, "end": 55487578, "strand": "+", "slug": "nat14" }, { "symbol": "SSC5D", "ensemblId": "ENSG00000179954", "biotype": "protein_coding", "start": 55488404, "end": 55519099, "strand": "+", "slug": "ssc5d" }, { "symbol": "SBK2", "ensemblId": "ENSG00000187550", "biotype": "protein_coding", "start": 55528607, "end": 55537143, "strand": "-", "slug": "sbk2" }, { "symbol": "SBK3", "ensemblId": "ENSG00000231274", "biotype": "protein_coding", "start": 55539018, "end": 55550284, "strand": "-", "slug": "sbk3" }, { "symbol": "ZNF579", "ensemblId": "ENSG00000218891", "biotype": "protein_coding", "start": 55576774, "end": 55580921, "strand": "-", "slug": "znf579" }, { "symbol": "FIZ1", "ensemblId": "ENSG00000179943", "biotype": "protein_coding", "start": 55591371, "end": 55606194, "strand": "-", "slug": "fiz1" }, { "symbol": "ZNF524", "ensemblId": "ENSG00000171443", "biotype": "protein_coding", "start": 55599714, "end": 55603592, "strand": "+", "slug": "znf524" }, { "symbol": "ZNF865", "ensemblId": "ENSG00000261221", "biotype": "protein_coding", "start": 55605502, "end": 55617269, "strand": "+", "slug": "znf865" }, { "symbol": "ZNF784", "ensemblId": "ENSG00000179922", "biotype": "protein_coding", "start": 55620741, "end": 55624570, "strand": "-", "slug": "znf784" }, { "symbol": "ZNF581", "ensemblId": "ENSG00000171425", "biotype": "protein_coding", "start": 55624664, "end": 55647294, "strand": "+", "slug": "znf581" }, { "symbol": "ZNF580", "ensemblId": "ENSG00000213015", "biotype": "protein_coding", "start": 55635003, "end": 55643470, "strand": "+", "slug": "znf580" } ], "truncated": false }, "reports": [ { "slug": "congenital-myopathies", "name": "Medfødte myopatier", "diseases": [ { "mondoId": "MONDO:0018958", "name": "Nemalin myopati", "genes": 12, "inheritance": null, "description": "En medfødt myopati, der kendetegnes ved stavformede strukturer i muskelfibrene, oftest forårsaget af varianter i NEB eller ACTA1.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/congenital-myopathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "ankle-contracture", "name": "Ankle contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-contracture" }, { "slug": "rhabdomyolysis", "name": "Breakdown of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rhabdomyolysis" }, { "slug": "expressive-language-delay", "name": "Communication delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/expressive-language-delay" }, { "slug": "decreased-hip-abduction", "name": "Decreased hip abduction", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-hip-abduction" }, { "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": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/floppy-infant" }, { "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": "difficulty-running", "name": "Difficulty running", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/difficulty-running" }, { "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": "elbow-contracture", "name": "Elbow contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elbow-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": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "fatty-replacement-of-ventricular-myocardial-tissue", "name": "Fatty replacement of ventricular myocardial tissue", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatty-replacement-of-ventricular-myocardial-tissue" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "gowers-sign", "name": "Gowers sign", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gowers-sign" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "hip-contracture", "name": "Hip contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hip-contracture" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "limb-girdle-muscle-weakness", "name": "Limb-girdle muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-girdle-muscle-weakness" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "minicore-myopathy", "name": "Minicore myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/minicore-myopathy" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "myopathic-facies", "name": "Myopathic facies", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopathic-facies" }, { "slug": "neck-flexor-weakness", "name": "Neck flexion weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neck-flexor-weakness" }, { "slug": "nemaline-bodies", "name": "Nemaline bodies", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nemaline-bodies" }, { "slug": "obstructive-sleep-apnea", "name": "Obstructive sleep apnea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/obstructive-sleep-apnea" }, { "slug": "pelvic-girdle-muscle-weakness", "name": "Pelvic girdle muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pelvic-girdle-muscle-weakness" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-muscle-weakness", "name": "Progressive muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progressive-muscle-weakness" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "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": "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": "reduced-forced-vital-capacity", "name": "Reduced forced vital capacity", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity" }, { "slug": "spinal-rigidity", "name": "Reduced spine movement", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spinal-rigidity" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "achilles-tendon-contracture", "name": "Shortening of the achilles tendon", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/achilles-tendon-contracture" }, { "slug": "shoulder-flexion-contracture", "name": "Shoulder flexion contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/shoulder-flexion-contracture" }, { "slug": "slender-build", "name": "Slender build", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slender-build" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "type-1-muscle-fiber-predominance", "name": "Type 1 muscle fiber predominance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/waddling-gait" }, { "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": "shoulder-girdle-muscle-weakness", "name": "Weak shoulder muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness" }, { "slug": "weakness-of-facial-musculature", "name": "Weakness of facial musculature", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/weakness-of-facial-musculature" }, { "slug": "scapular-winging", "name": "Winged shoulder blade", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scapular-winging" }, { "slug": "wrist-flexion-contracture", "name": "Wrist flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wrist-flexion-contracture" }, { "slug": "z-band-streaming", "name": "Z-band streaming", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/z-band-streaming" } ], "related": [ { "slug": "acta1", "symbol": "ACTA1", "name": "actin alpha 1, skeletal muscle", "shared": 1, "url": "https://dantelabs.com/da/genes/acta1" }, { "slug": "cfl2", "symbol": "CFL2", "name": "cofilin 2", "shared": 1, "url": "https://dantelabs.com/da/genes/cfl2" }, { "slug": "kbtbd13", "symbol": "KBTBD13", "name": "kelch repeat and BTB domain containing 13", "shared": 1, "url": "https://dantelabs.com/da/genes/kbtbd13" }, { "slug": "klhl40", "symbol": "KLHL40", "name": "kelch like family member 40", "shared": 1, "url": "https://dantelabs.com/da/genes/klhl40" }, { "slug": "klhl41", "symbol": "KLHL41", "name": "kelch like family member 41", "shared": 1, "url": "https://dantelabs.com/da/genes/klhl41" }, { "slug": "lmod3", "symbol": "LMOD3", "name": "leiomodin 3", "shared": 1, "url": "https://dantelabs.com/da/genes/lmod3" }, { "slug": "mypn", "symbol": "MYPN", "name": "myopalladin", "shared": 1, "url": "https://dantelabs.com/da/genes/mypn" }, { "slug": "neb", "symbol": "NEB", "name": "nebulin", "shared": 1, "url": "https://dantelabs.com/da/genes/neb" }, { "slug": "selenon", "symbol": "SELENON", "name": "selenoprotein N", "shared": 1, "url": "https://dantelabs.com/da/genes/selenon" }, { "slug": "tpm2", "symbol": "TPM2", "name": "tropomyosin 2", "shared": 1, "url": "https://dantelabs.com/da/genes/tpm2" }, { "slug": "tpm3", "symbol": "TPM3", "name": "tropomyosin 3", "shared": 1, "url": "https://dantelabs.com/da/genes/tpm3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }