{ "url": "https://dantelabs.com/nl/genes/tsfm", "gene": { "slug": "tsfm", "symbol": "TSFM", "name": "Ts translation elongation factor, mitochondrial", "hgnc": "HGNC:12367", "summary": null, "location": "12q14.1", "locusType": "gene with protein product", "aliases": [ "EF-Tsmt", "EF-TS" ], "previousSymbols": [], "ensemblId": "ENSG00000123297", "entrezId": 10102, "omim": [ "604723" ], "uniprot": [ "P43897" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 57782787, "end": 57797587, "strand": "+", "ensemblTranscript": "ENST00000652027.2", "refseqTranscript": "NM_005726.6", "ensemblProtein": "ENSP00000499171.2", "refseqProtein": "NP_005717.3", "exons": [ { "start": 57782787, "end": 57782858 }, { "start": 57783110, "end": 57783283 }, { "start": 57786163, "end": 57786291 }, { "start": 57787040, "end": 57787162 }, { "start": 57792986, "end": 57793073 }, { "start": 57796177, "end": 57797587 } ], "cds": { "start": 57782802, "end": 57796583 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 58176372, "end": 58201854, "strand": "+" }, "neighbourhood": { "release": "116", "start": 57290187, "end": 58290186, "genes": [ { "symbol": "", "ensemblId": "ENSG00000258830", "biotype": "protein_coding", "start": 57249609, "end": 57296484, "strand": "-" }, { "symbol": "R3HDM2", "ensemblId": "ENSG00000179912", "biotype": "protein_coding", "start": 57253762, "end": 57431051, "strand": "-", "slug": "r3hdm2" }, { "symbol": "INHBC", "ensemblId": "ENSG00000175189", "biotype": "protein_coding", "start": 57434700, "end": 57452067, "strand": "+", "slug": "inhbc" }, { "symbol": "INHBE", "ensemblId": "ENSG00000139269", "biotype": "protein_coding", "start": 57452323, "end": 57459280, "strand": "+", "slug": "inhbe" }, { "symbol": "GLI1", "ensemblId": "ENSG00000111087", "biotype": "protein_coding", "start": 57459783, "end": 57472268, "strand": "+", "slug": "gli1" }, { "symbol": "ARHGAP9", "ensemblId": "ENSG00000123329", "biotype": "protein_coding", "start": 57472260, "end": 57488831, "strand": "-", "slug": "arhgap9" }, { "symbol": "MARS1", "ensemblId": "ENSG00000166986", "biotype": "protein_coding", "start": 57475445, "end": 57517702, "strand": "+", "slug": "mars1" }, { "symbol": "DDIT3", "ensemblId": "ENSG00000175197", "biotype": "protein_coding", "start": 57516584, "end": 57523630, "strand": "-", "slug": "ddit3" }, { "symbol": "", "ensemblId": "ENSG00000285133", "biotype": "protein_coding", "start": 57517712, "end": 57520480, "strand": "-" }, { "symbol": "MBD6", "ensemblId": "ENSG00000166987", "biotype": "protein_coding", "start": 57520710, "end": 57530614, "strand": "+", "slug": "mbd6" }, { "symbol": "DCTN2", "ensemblId": "ENSG00000175203", "biotype": "protein_coding", "start": 57529567, "end": 57547256, "strand": "-", "slug": "dctn2" }, { "symbol": "KIF5A", "ensemblId": "ENSG00000155980", "biotype": "protein_coding", "start": 57546026, "end": 57586633, "strand": "+", "slug": "kif5a" }, { "symbol": "PIP4K2C", "ensemblId": "ENSG00000166908", "biotype": "protein_coding", "start": 57591161, "end": 57603418, "strand": "+", "slug": "pip4k2c" }, { "symbol": "DTX3", "ensemblId": "ENSG00000178498", "biotype": "protein_coding", "start": 57604484, "end": 57609804, "strand": "+", "slug": "dtx3" }, { "symbol": "ARHGEF25", "ensemblId": "ENSG00000240771", "biotype": "protein_coding", "start": 57610111, "end": 57617245, "strand": "+", "slug": "arhgef25" }, { "symbol": "", "ensemblId": "ENSG00000287908", "biotype": "protein_coding", "start": 57615280, "end": 57626125, "strand": "+" }, { "symbol": "B4GALNT1", "ensemblId": "ENSG00000135454", "biotype": "protein_coding", "start": 57623409, "end": 57633242, "strand": "-", "slug": "b4galnt1" }, { "symbol": "OS9", "ensemblId": "ENSG00000135506", "biotype": "protein_coding", "start": 57693841, "end": 57728342, "strand": "+", "slug": "os9" }, { "symbol": "AGAP2", "ensemblId": "ENSG00000135439", "biotype": "protein_coding", "start": 57723761, "end": 57742209, "strand": "-", "slug": "agap2" }, { "symbol": "TSPAN31", "ensemblId": "ENSG00000135452", "biotype": "protein_coding", "start": 57738013, "end": 57751383, "strand": "+", "slug": "tspan31" }, { "symbol": "CDK4", "ensemblId": "ENSG00000135446", "biotype": "protein_coding", "start": 57746043, "end": 57756013, "strand": "-", "slug": "cdk4" }, { "symbol": "MARCHF9", "ensemblId": "ENSG00000139266", "biotype": "protein_coding", "start": 57754940, "end": 57760411, "strand": "+", "slug": "marchf9" }, { "symbol": "CYP27B1", "ensemblId": "ENSG00000111012", "biotype": "protein_coding", "start": 57762334, "end": 57768986, "strand": "-", "slug": "cyp27b1" }, { "symbol": "METTL1", "ensemblId": "ENSG00000037897", "biotype": "protein_coding", "start": 57768471, "end": 57772131, "strand": "-", "slug": "mettl1" }, { "symbol": "EEF1AKMT3", "ensemblId": "ENSG00000123427", "biotype": "protein_coding", "start": 57771492, "end": 57782544, "strand": "+", "slug": "eef1akmt3" }, { "symbol": "", "ensemblId": "ENSG00000257921", "biotype": "protein_coding", "start": 57772660, "end": 57797554, "strand": "+" }, { "symbol": "AVIL", "ensemblId": "ENSG00000135407", "biotype": "protein_coding", "start": 57797376, "end": 57818734, "strand": "-", "slug": "avil" }, { "symbol": "CTDSP2", "ensemblId": "ENSG00000175215", "biotype": "protein_coding", "start": 57819925, "end": 57846976, "strand": "-", "slug": "ctdsp2" }, { "symbol": "ATP23", "ensemblId": "ENSG00000166896", "biotype": "protein_coding", "start": 57906039, "end": 57959148, "strand": "+", "slug": "atp23" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primaire mitochondriële ziekte", "diseases": [ { "mondoId": "MONDO:0000732", "name": "Gecombineerde deficiëntie van oxidatieve fosforylering", "genes": 48, "inheritance": null, "description": "Aandoeningen, meestal veroorzaakt door nucleaire genen die betrokken zijn bij de productie van mitochondriale eiwitten. Ze verminderen meerdere ademhalingsketencomplexen tegelijk en veroorzaken vaak ernstige ziekte van meerdere organen in de kindertijd.", "management": "Weten kan een diagnostisch zoektraject beëindigen en helpt bij controle en ondersteunende zorg.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/primary-mitochondrial-disease" }, { "slug": "leigh-syndrome", "name": "Syndroom van Leigh", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Syndroom van Leigh", "genes": 69, "inheritance": null, "description": "Een progressieve neurologische aandoening, gekenmerkt door specifieke neuropathologische kenmerken waarbij laesies in de hersenstam en de basale ganglia samen voorkomen.", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/leigh-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "rhabdomyolysis", "name": "Breakdown of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rhabdomyolysis" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "concentric-hypertrophic-cardiomyopathy", "name": "Concentric hypertrophic cardiomyopathy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/concentric-hypertrophic-cardiomyopathy" }, { "slug": "optic-neuropathy", "name": "Damaged optic nerve", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-neuropathy" }, { "slug": "decreased-activity-of-mitochondrial-complex-i", "name": "Decreased activity of mitochondrial complex I", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i" }, { "slug": "decreased-activity-of-mitochondrial-complex-iii", "name": "Decreased activity of mitochondrial complex III", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii" }, { "slug": "decreased-activity-of-mitochondrial-complex-iv", "name": "Decreased activity of mitochondrial complex IV", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dystonia" }, { "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": "elevated-lactate-pyruvate-ratio", "name": "Elevated lactate:pyruvate ratio", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-lactate-pyruvate-ratio" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "hyperammonemia", "name": "High blood ammonia levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperammonemia" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "apathy", "name": "Lack of feeling, emotion, interest", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/apathy" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "hyponatremia", "name": "Low blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyponatremia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "patent-foramen-ovale", "name": "Patent foramen ovale", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/patent-foramen-ovale" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "severe-lactic-acidosis", "name": "Severe lactic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-lactic-acidosis" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tremor" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/aifm1" }, { "slug": "ears2", "symbol": "EARS2", "name": "glutamyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/nl/genes/ears2" }, { "slug": "fars2", "symbol": "FARS2", "name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/nl/genes/fars2" }, { "slug": "gfm1", "symbol": "GFM1", "name": "G elongation factor mitochondrial 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/gfm1" }, { "slug": "gfm2", "symbol": "GFM2", "name": "GTP dependent ribosome recycling factor mitochondrial 2", "shared": 2, "url": "https://dantelabs.com/nl/genes/gfm2" }, { "slug": "gtpbp3", "symbol": "GTPBP3", "name": "GTP binding protein 3, mitochondrial", "shared": 2, "url": "https://dantelabs.com/nl/genes/gtpbp3" }, { "slug": "mrps34", "symbol": "MRPS34", "name": "mitochondrial ribosomal protein S34", "shared": 2, "url": "https://dantelabs.com/nl/genes/mrps34" }, { "slug": "mtfmt", "symbol": "MTFMT", "name": "mitochondrial methionyl-tRNA formyltransferase", "shared": 2, "url": "https://dantelabs.com/nl/genes/mtfmt" }, { "slug": "mtrfr", "symbol": "MTRFR", "name": "mitochondrial translation release factor in rescue", "shared": 2, "url": "https://dantelabs.com/nl/genes/mtrfr" }, { "slug": "pnpt1", "symbol": "PNPT1", "name": "polyribonucleotide nucleotidyltransferase 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/pnpt1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/nl/genes/aars2" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/nl/genes/atp5f1a" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }