{ "url": "https://dantelabs.com/de/genes/mtfmt", "gene": { "slug": "mtfmt", "symbol": "MTFMT", "name": "mitochondrial methionyl-tRNA formyltransferase", "hgnc": "HGNC:29666", "summary": null, "location": "15q22.31", "locusType": "gene with protein product", "aliases": [ "FMT1" ], "previousSymbols": [], "ensemblId": "ENSG00000103707", "entrezId": 123263, "omim": [ "611766" ], "uniprot": [ "Q96DP5" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 65001512, "end": 65029639, "strand": "-", "ensemblTranscript": "ENST00000220058.9", "refseqTranscript": "NM_139242.4", "ensemblProtein": "ENSP00000220058.4", "refseqProtein": "NP_640335.2", "exons": [ { "start": 65001512, "end": 65003256 }, { "start": 65004854, "end": 65004936 }, { "start": 65006113, "end": 65006191 }, { "start": 65016436, "end": 65016527 }, { "start": 65020197, "end": 65020272 }, { "start": 65021514, "end": 65021616 }, { "start": 65023672, "end": 65023794 }, { "start": 65026831, "end": 65027040 }, { "start": 65029405, "end": 65029639 } ], "cds": { "start": 65003062, "end": 65029613 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 65294845, "end": 65321977, "strand": "-" }, "neighbourhood": { "release": "116", "start": 64515576, "end": 65515575, "genes": [ { "symbol": "ZNF609", "ensemblId": "ENSG00000180357", "biotype": "protein_coding", "start": 64460549, "end": 64686068, "strand": "+", "slug": "znf609" }, { "symbol": "OAZ2", "ensemblId": "ENSG00000180304", "biotype": "protein_coding", "start": 64686833, "end": 64703281, "strand": "-", "slug": "oaz2" }, { "symbol": "RBPMS2", "ensemblId": "ENSG00000166831", "biotype": "protein_coding", "start": 64739886, "end": 64775860, "strand": "-", "slug": "rbpms2" }, { "symbol": "PIF1", "ensemblId": "ENSG00000140451", "biotype": "protein_coding", "start": 64815629, "end": 64825677, "strand": "-", "slug": "pif1" }, { "symbol": "PLEKHO2", "ensemblId": "ENSG00000241839", "biotype": "protein_coding", "start": 64839231, "end": 64868002, "strand": "+", "slug": "plekho2" }, { "symbol": "", "ensemblId": "ENSG00000249240", "biotype": "protein_coding", "start": 64841883, "end": 64930920, "strand": "+" }, { "symbol": "ANKDD1A", "ensemblId": "ENSG00000166839", "biotype": "protein_coding", "start": 64911853, "end": 64979845, "strand": "+", "slug": "ankdd1a" }, { "symbol": "SPG21", "ensemblId": "ENSG00000090487", "biotype": "protein_coding", "start": 64954566, "end": 64990312, "strand": "-", "slug": "spg21" }, { "symbol": "SLC51B", "ensemblId": "ENSG00000186198", "biotype": "protein_coding", "start": 65045132, "end": 65053397, "strand": "+", "slug": "slc51b" }, { "symbol": "RASL12", "ensemblId": "ENSG00000103710", "biotype": "protein_coding", "start": 65053337, "end": 65076690, "strand": "-", "slug": "rasl12" }, { "symbol": "KBTBD13", "ensemblId": "ENSG00000234438", "biotype": "protein_coding", "start": 65076746, "end": 65079948, "strand": "+", "slug": "kbtbd13" }, { "symbol": "UBAP1L", "ensemblId": "ENSG00000246922", "biotype": "protein_coding", "start": 65091766, "end": 65115200, "strand": "-", "slug": "ubap1l" }, { "symbol": "PDCD7", "ensemblId": "ENSG00000090470", "biotype": "protein_coding", "start": 65117379, "end": 65133836, "strand": "-", "slug": "pdcd7" }, { "symbol": "CLPX", "ensemblId": "ENSG00000166855", "biotype": "protein_coding", "start": 65148219, "end": 65185643, "strand": "-", "slug": "clpx" }, { "symbol": "CILP", "ensemblId": "ENSG00000138615", "biotype": "protein_coding", "start": 65194760, "end": 65211491, "strand": "-", "slug": "cilp" }, { "symbol": "PARP16", "ensemblId": "ENSG00000138617", "biotype": "protein_coding", "start": 65231398, "end": 65300618, "strand": "-", "slug": "parp16" }, { "symbol": "IGDCC3", "ensemblId": "ENSG00000174498", "biotype": "protein_coding", "start": 65327127, "end": 65378087, "strand": "-", "slug": "igdcc3" }, { "symbol": "IGDCC4", "ensemblId": "ENSG00000103742", "biotype": "protein_coding", "start": 65381479, "end": 65423083, "strand": "-", "slug": "igdcc4" }, { "symbol": "DPP8", "ensemblId": "ENSG00000074603", "biotype": "protein_coding", "start": 65442463, "end": 65517757, "strand": "-", "slug": "dpp8" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primäre mitochondriale Erkrankung", "diseases": [ { "mondoId": "MONDO:0000732", "name": "Kombinierter Defekt der oxidativen Phosphorylierung", "genes": 48, "inheritance": null, "description": "Erkrankungen, meist verursacht durch Kerngene, die an der Produktion mitochondrialer Proteine beteiligt sind. Sie vermindern mehrere Komplexe der Atmungskette gleichzeitig und führen häufig im Kindesalter zu schweren Erkrankungen mehrerer Organsysteme.", "management": "Ein Befund kann eine diagnostische Suche beenden und die Überwachung sowie unterstützende Betreuung leiten.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/primary-mitochondrial-disease" }, { "slug": "leigh-syndrome", "name": "Leigh-Syndrom", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Leigh-Syndrom", "genes": 69, "inheritance": null, "description": "Eine fortschreitende neurologische Erkrankung, die durch spezifische neuropathologische Merkmale mit Läsionen im Hirnstamm und in den Basalganglien gekennzeichnet ist.", "management": null, "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/de/conditions/leigh-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebral-white-matter-morphology", "name": "Abnormal cerebral white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "bilateral-tonic-clonic-seizure-with-focal-onset", "name": "Bilateral tonic-clonic seizure with focal onset", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset" }, { "slug": "respiratory-arrest", "name": "Breathing cessation", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-arrest" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "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-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": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "incoordination", "name": "Incoordination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/incoordination" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "neurogenic-bladder", "name": "Lack of bladder control due to nervous system injury", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neurogenic-bladder" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "shortened-pr-interval", "name": "Shortened PR interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/shortened-pr-interval" }, { "slug": "single-transverse-palmar-crease", "name": "Single transverse palmar crease", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/single-transverse-palmar-crease" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "ventricular-septal-hypertrophy", "name": "Ventricular septal hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy" }, { "slug": "vertical-supranuclear-gaze-palsy", "name": "Vertical supranuclear gaze palsy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vertical-supranuclear-gaze-palsy" }, { "slug": "sleep-terror", "name": "Waking up screaming", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-terror" }, { "slug": "wolff-parkinson-white-syndrome", "name": "Wolff-Parkinson-White syndrome", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wolff-parkinson-white-syndrome" }, { "slug": "progressive-neurologic-deterioration", "name": "Worsening neurological symptoms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration" } ], "related": [ { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/de/genes/aifm1" }, { "slug": "ears2", "symbol": "EARS2", "name": "glutamyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/de/genes/ears2" }, { "slug": "fars2", "symbol": "FARS2", "name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/de/genes/fars2" }, { "slug": "gfm1", "symbol": "GFM1", "name": "G elongation factor mitochondrial 1", "shared": 2, "url": "https://dantelabs.com/de/genes/gfm1" }, { "slug": "gfm2", "symbol": "GFM2", "name": "GTP dependent ribosome recycling factor mitochondrial 2", "shared": 2, "url": "https://dantelabs.com/de/genes/gfm2" }, { "slug": "gtpbp3", "symbol": "GTPBP3", "name": "GTP binding protein 3, mitochondrial", "shared": 2, "url": "https://dantelabs.com/de/genes/gtpbp3" }, { "slug": "mrps34", "symbol": "MRPS34", "name": "mitochondrial ribosomal protein S34", "shared": 2, "url": "https://dantelabs.com/de/genes/mrps34" }, { "slug": "mtrfr", "symbol": "MTRFR", "name": "mitochondrial translation release factor in rescue", "shared": 2, "url": "https://dantelabs.com/de/genes/mtrfr" }, { "slug": "pnpt1", "symbol": "PNPT1", "name": "polyribonucleotide nucleotidyltransferase 1", "shared": 2, "url": "https://dantelabs.com/de/genes/pnpt1" }, { "slug": "tsfm", "symbol": "TSFM", "name": "Ts translation elongation factor, mitochondrial", "shared": 2, "url": "https://dantelabs.com/de/genes/tsfm" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/de/genes/aars2" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/de/genes/atp5f1a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }