{ "url": "https://dantelabs.com/lt/genes/tdp2", "gene": { "slug": "tdp2", "symbol": "TDP2", "name": "tyrosyl-DNA phosphodiesterase 2", "hgnc": "HGNC:17768", "summary": null, "location": "6p22.3", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "TTRAP" ], "ensemblId": "ENSG00000111802", "entrezId": 51567, "omim": [ "605764" ], "uniprot": [ "O95551" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "6", "start": 24649979, "end": 24666899, "strand": "-", "ensemblTranscript": "ENST00000378198.9", "refseqTranscript": "NM_016614.3", "ensemblProtein": "ENSP00000367440.4", "refseqProtein": "NP_057698.2", "exons": [ { "start": 24649979, "end": 24651069 }, { "start": 24652983, "end": 24653153 }, { "start": 24654412, "end": 24654530 }, { "start": 24657812, "end": 24657903 }, { "start": 24658561, "end": 24658734 }, { "start": 24666526, "end": 24666611 }, { "start": 24666698, "end": 24666899 } ], "cds": { "start": 24650788, "end": 24666862 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "6", "start": 24650205, "end": 24667261, "strand": "-" }, "neighbourhood": { "release": "116", "start": 24158439, "end": 25158438, "genes": [ { "symbol": "DCDC2", "ensemblId": "ENSG00000146038", "biotype": "protein_coding", "start": 24171747, "end": 24383300, "strand": "-", "slug": "dcdc2" }, { "symbol": "MRS2", "ensemblId": "ENSG00000124532", "biotype": "protein_coding", "start": 24402796, "end": 24431065, "strand": "+", "slug": "mrs2" }, { "symbol": "GPLD1", "ensemblId": "ENSG00000112293", "biotype": "protein_coding", "start": 24418076, "end": 24495205, "strand": "-", "slug": "gpld1" }, { "symbol": "ALDH5A1", "ensemblId": "ENSG00000112294", "biotype": "protein_coding", "start": 24494788, "end": 24544150, "strand": "+", "slug": "aldh5a1" }, { "symbol": "KIAA0319", "ensemblId": "ENSG00000137261", "biotype": "protein_coding", "start": 24544104, "end": 24646197, "strand": "-", "slug": "kiaa0319" }, { "symbol": "ACOT13", "ensemblId": "ENSG00000112304", "biotype": "protein_coding", "start": 24666901, "end": 24714084, "strand": "+", "slug": "acot13" }, { "symbol": "C6orf62", "ensemblId": "ENSG00000112308", "biotype": "protein_coding", "start": 24704105, "end": 24720900, "strand": "-", "slug": "c6orf62" }, { "symbol": "GMNN", "ensemblId": "ENSG00000112312", "biotype": "protein_coding", "start": 24774892, "end": 24788205, "strand": "+", "slug": "gmnn" }, { "symbol": "ARMH2", "ensemblId": "ENSG00000260286", "biotype": "protein_coding", "start": 24797323, "end": 24798917, "strand": "-", "slug": "armh2" }, { "symbol": "", "ensemblId": "ENSG00000282804", "biotype": "protein_coding", "start": 24797373, "end": 24809798, "strand": "-" }, { "symbol": "RIPOR2", "ensemblId": "ENSG00000111913", "biotype": "protein_coding", "start": 24803362, "end": 25042170, "strand": "-", "slug": "ripor2" } ], "truncated": false }, "reports": [ { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosominės recesyvinės smegenėlių ataksijos (įsk. CANVAS ir AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosominė recesyvinė smegenėlių ataksija", "genes": 57, "inheritance": "autosomal-recessive", "description": "Recesyviai paveldimų ataksijų grupė, kurią sukelia biallelinės variantų geno RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 ir SYNE1 atvejais.", "management": "Ataksiją dėl vitamino E trūkumo (TTPA) galima gydyti vitamino E preparatais; kitos formos valdomos fizioterapija ir simptomų priežiūra, o giminaičiams gali būti siūlomas nešiotojo tyrimas.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/autosomal-recessive-cerebellar-ataxias" }, { "slug": "epilepsy-report", "name": "Epilepsija (pilnas tyrimas)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsija", "genes": 171, "inheritance": null, "description": "Smegenų sutrikimas, pasireiškiantis epizodais, kai neuronai nenormaliai intensyviai išsikrauna, dėl ko atsiranda trumpalaikiai jutimo ar judesio neurologinio funkcijos sutrikimo arba psichikos funkcijos sutrikimo epizodai. Šie epizodai gali būti susiję arba nesusiję su sąmonės netekimu ar traukuliais.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "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": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "excessive-daytime-somnolence", "name": "Excessive daytime sleepiness", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/excessive-daytime-somnolence" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "hyponatremia", "name": "Low blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyponatremia" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/easy-fatigability" } ], "related": [ { "slug": "pnkp", "symbol": "PNKP", "name": "polynucleotide kinase 3'-phosphatase", "shared": 2, "url": "https://dantelabs.com/lt/genes/pnkp" }, { "slug": "rubcn", "symbol": "RUBCN", "name": "rubicon autophagy regulator", "shared": 2, "url": "https://dantelabs.com/lt/genes/rubcn" }, { "slug": "wwox", "symbol": "WWOX", "name": "WW domain containing oxidoreductase", "shared": 2, "url": "https://dantelabs.com/lt/genes/wwox" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/lt/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/lt/genes/adam22" }, { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/ahi1" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/lt/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg13" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/lt/genes/ano10" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/ap3b2" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }