{ "url": "https://dantelabs.com/pt/genes/polrmt", "gene": { "slug": "polrmt", "symbol": "POLRMT", "name": "RNA polymerase mitochondrial", "hgnc": "HGNC:9200", "summary": null, "location": "19p13.3", "locusType": "gene with protein product", "aliases": [ "h-mtRPOL", "APOLMT", "MTRNAP", "MTRPOL" ], "previousSymbols": [], "ensemblId": "ENSG00000099821", "entrezId": 5442, "omim": [ "601778" ], "uniprot": [ "O00411" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 617221, "end": 633537, "strand": "-", "ensemblTranscript": "ENST00000588649.7", "refseqTranscript": "NM_005035.4", "ensemblProtein": "ENSP00000465759.2", "refseqProtein": "NP_005026.3", "exons": [ { "start": 617221, "end": 617323 }, { "start": 617419, "end": 617480 }, { "start": 617570, "end": 617655 }, { "start": 617777, "end": 617849 }, { "start": 618488, "end": 618586 }, { "start": 618705, "end": 618760 }, { "start": 618997, "end": 619110 }, { "start": 619210, "end": 619296 }, { "start": 619586, 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"start": 685546, "end": 695498, "strand": "-", "slug": "prss57" }, { "symbol": "PALM", "ensemblId": "ENSG00000099864", "biotype": "protein_coding", "start": 708906, "end": 748329, "strand": "+", "slug": "palm" }, { "symbol": "MISP", "ensemblId": "ENSG00000099812", "biotype": "protein_coding", "start": 748404, "end": 764363, "strand": "+", "slug": "misp" }, { "symbol": "PTBP1", "ensemblId": "ENSG00000011304", "biotype": "protein_coding", "start": 797075, "end": 812327, "strand": "+", "slug": "ptbp1" }, { "symbol": "PLPPR3", "ensemblId": "ENSG00000129951", "biotype": "protein_coding", "start": 810908, "end": 822619, "strand": "-", "slug": "plppr3" }, { "symbol": "AZU1", "ensemblId": "ENSG00000172232", "biotype": "protein_coding", "start": 825097, "end": 832018, "strand": "+", "slug": "azu1" }, { "symbol": "PRTN3", "ensemblId": "ENSG00000196415", "biotype": "protein_coding", "start": 840999, "end": 848255, "strand": "+", "slug": "prtn3" }, { "symbol": "ELANE", "ensemblId": "ENSG00000197561", "biotype": "protein_coding", "start": 850951, "end": 856247, "strand": "+", "slug": "elane" }, { "symbol": "CFD", "ensemblId": "ENSG00000197766", "biotype": "protein_coding", "start": 859426, "end": 869492, "strand": "+", "slug": "cfd" }, { "symbol": "MED16", "ensemblId": "ENSG00000175221", "biotype": "protein_coding", "start": 867630, "end": 893222, "strand": "-", "slug": "med16" }, { "symbol": "R3HDM4", "ensemblId": "ENSG00000198858", "biotype": "protein_coding", "start": 896503, "end": 913245, "strand": "-", "slug": "r3hdm4" }, { "symbol": "KISS1R", "ensemblId": "ENSG00000116014", "biotype": "protein_coding", "start": 917287, "end": 921005, "strand": "+", "slug": "kiss1r" }, { "symbol": "ARID3A", "ensemblId": "ENSG00000116017", "biotype": "protein_coding", "start": 924528, "end": 975939, "strand": "+", "slug": "arid3a" }, { "symbol": "WDR18", "ensemblId": "ENSG00000065268", "biotype": "protein_coding", "start": 984248, "end": 998438, "strand": "+", "slug": "wdr18" }, { "symbol": "GRIN3B", "ensemblId": "ENSG00000116032", "biotype": "protein_coding", "start": 1000419, "end": 1009732, "strand": "+", "slug": "grin3b" }, { "symbol": "TMEM259", "ensemblId": "ENSG00000182087", "biotype": "protein_coding", "start": 1009615, "end": 1021270, "strand": "-", "slug": "tmem259" }, { "symbol": "CNN2", "ensemblId": "ENSG00000064666", "biotype": "protein_coding", "start": 1026270, "end": 1039077, "strand": "+", "slug": "cnn2" }, { "symbol": "ABCA7", "ensemblId": "ENSG00000064687", "biotype": "protein_coding", "start": 1039997, "end": 1065572, "strand": "+", "slug": "abca7" }, { "symbol": "ARHGAP45", "ensemblId": "ENSG00000180448", "biotype": "protein_coding", "start": 1065923, "end": 1087829, "strand": "+", "slug": "arhgap45" }, { "symbol": "POLR2E", "ensemblId": "ENSG00000099817", "biotype": "protein_coding", "start": 1085104, "end": 1095486, "strand": "-", "slug": "polr2e" }, { "symbol": "GPX4", "ensemblId": "ENSG00000167468", "biotype": "protein_coding", "start": 1103982, "end": 1106791, "strand": "+", "slug": "gpx4" }, { "symbol": "SBNO2", "ensemblId": "ENSG00000064932", "biotype": "protein_coding", "start": 1107634, "end": 1174295, "strand": "-", "slug": "sbno2" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Doença Mitocondrial Primária", "diseases": [ { "mondoId": "MONDO:0000732", "name": "Deficiência Combinada de Fosforilação Oxidativa", "genes": 48, "inheritance": null, "description": "Doenças, geralmente causadas por genes nucleares envolvidos na produção de proteínas mitocondriais, que reduzem vários complexos da cadeia respiratória em simultâneo e frequentemente causam doença grave de múltiplos sistemas na infância.", "management": "Conhecer esta condição pode pôr fim a uma pesquisa de diagnóstico e orientar a vigilância e os cuidados de suporte.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotelorism" }, { "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": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blue-sclerae" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "elevated-brain-lactate-level-by-mrs", "name": "Elevated brain lactate level by MRS", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs" }, { "slug": "enuresis", "name": "Enuresis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enuresis" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "high-frequency-hearing-impairment", "name": "Hearing loss, high-frequency", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-frequency-hearing-impairment" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "hypophosphatemic-rickets", "name": "Hypophosphatemic rickets", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypophosphatemic-rickets" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "hypomagnesemia", "name": "Low blood magnesium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypomagnesemia" }, { "slug": "hypophosphatemia", "name": "Low blood phosphate level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypophosphatemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "medullary-nephrocalcinosis", "name": "Medullary nephrocalcinosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/medullary-nephrocalcinosis" }, { "slug": "mild-global-developmental-delay", "name": "Mild global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-global-developmental-delay" }, { "slug": "mildly-elevated-creatine-kinase", "name": "Mildly elevated creatine kinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "open-mouth", "name": "Open mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/open-mouth" }, { "slug": "organic-aciduria", "name": "Organic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/organic-aciduria" }, { "slug": "genu-varum", "name": "Outward bow-leggedness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/genu-varum" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "progressive-external-ophthalmoplegia", "name": "Progressive external ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "proximal-tubulopathy", "name": "Proximal tubulopathy", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-tubulopathy" }, { "slug": "renal-fanconi-syndrome", "name": "Renal Fanconi syndrome", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-fanconi-syndrome" }, { "slug": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "single-transverse-palmar-crease", "name": "Single transverse palmar crease", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/single-transverse-palmar-crease" }, { "slug": "stage-3-chronic-kidney-disease", "name": "Stage 3 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stage-3-chronic-kidney-disease" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "type-2-muscle-fiber-predominance", "name": "Type 2 muscle fiber predominance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/type-2-muscle-fiber-predominance" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/pt/genes/aars2" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/aifm1" }, { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 1, "url": "https://dantelabs.com/pt/genes/atp5f1a" }, { "slug": "atp5f1d", "symbol": "ATP5F1D", "name": "ATP synthase F1 subunit delta", "shared": 1, "url": "https://dantelabs.com/pt/genes/atp5f1d" }, { "slug": "atp5f1e", "symbol": "ATP5F1E", "name": "ATP synthase F1 subunit epsilon", "shared": 1, "url": "https://dantelabs.com/pt/genes/atp5f1e" }, { "slug": "atp5po", "symbol": "ATP5PO", "name": "ATP synthase peripheral stalk subunit OSCP", "shared": 1, "url": "https://dantelabs.com/pt/genes/atp5po" }, { "slug": "c1qbp", "symbol": "C1QBP", "name": "complement C1q binding protein", "shared": 1, "url": "https://dantelabs.com/pt/genes/c1qbp" }, { "slug": "c2orf69", "symbol": "C2orf69", "name": "chromosome 2 open reading frame 69", "shared": 1, "url": "https://dantelabs.com/pt/genes/c2orf69" }, { "slug": "cars2", "symbol": "CARS2", "name": "cysteinyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/pt/genes/cars2" }, { "slug": "crls1", "symbol": "CRLS1", "name": "cardiolipin synthase 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/crls1" }, { "slug": "ears2", "symbol": "EARS2", "name": "glutamyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/pt/genes/ears2" }, { "slug": "elac2", "symbol": "ELAC2", "name": "elaC ribonuclease Z 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/elac2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }