{ "url": "https://dantelabs.com/lt/genes/dars1", "gene": { "slug": "dars1", "symbol": "DARS1", "name": "aspartyl-tRNA synthetase 1", "hgnc": "HGNC:2678", "summary": null, "location": "2q21.3", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "DARS" ], "ensemblId": "ENSG00000115866", "entrezId": 1615, "omim": [ "603084" ], "uniprot": [ "P14868" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 135905881, "end": 135985626, "strand": "-", "ensemblTranscript": "ENST00000264161.9", "refseqTranscript": "NM_001349.4", "ensemblProtein": "ENSP00000264161.4", "refseqProtein": "NP_001340.2", "exons": [ { "start": 135905881, "end": 135907407 }, { "start": 135911139, "end": 135911210 }, { "start": 135911382, "end": 135911493 }, { "start": 135912486, "end": 135912566 }, { "start": 135914469, "end": 135914511 }, { "start": 135916226, "end": 135916372 }, { "start": 135920453, "end": 135920600 }, { "start": 135922784, "end": 135922918 }, { "start": 135924387, "end": 135924498 }, { "start": 135932783, "end": 135932842 }, { "start": 135933910, "end": 135933990 }, { "start": 135943378, "end": 135943480 }, { "start": 135961396, "end": 135961498 }, { "start": 135979274, "end": 135979366 }, { "start": 135983397, "end": 135983454 }, { "start": 135985403, "end": 135985626 } ], "cds": { "start": 135907316, "end": 135985468 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 136664247, "end": 136743670, "strand": "-" }, "neighbourhood": { "release": "116", "start": 135445754, "end": 136445753, "genes": [ { "symbol": "ZRANB3", "ensemblId": "ENSG00000121988", "biotype": "protein_coding", "start": 135136916, "end": 135531228, "strand": "-", "slug": "zranb3" }, { "symbol": "R3HDM1", "ensemblId": "ENSG00000048991", "biotype": "protein_coding", "start": 135531448, "end": 135725497, "strand": "+", "slug": "r3hdm1" }, { "symbol": "UBXN4", "ensemblId": "ENSG00000144224", "biotype": "protein_coding", "start": 135741626, "end": 135785063, "strand": "+", "slug": "ubxn4" }, { "symbol": "LCT", "ensemblId": "ENSG00000115850", "biotype": "protein_coding", "start": 135787850, "end": 135837184, "strand": "-", "slug": "lct" }, { "symbol": "MCM6", "ensemblId": "ENSG00000076003", "biotype": "protein_coding", "start": 135839626, "end": 135876484, "strand": "-", "slug": "mcm6" }, { "symbol": "CXCR4", "ensemblId": "ENSG00000121966", "biotype": "protein_coding", "start": 136114349, "end": 136119177, "strand": "-", "slug": "cxcr4" } ], "truncated": false }, "reports": [ { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Pelizaeus-Merzbacher ligos ir hipomielinizuojančios leukodistrofijos", "diseases": [ { "mondoId": "MONDO:0014115", "name": "Hipomielinizacija su smegenų kamieno ir nugaros smegenų pažeidimu bei kojų spastiškumu (DARS1)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Reta paveldima hipomielinizuojančios leukodistrofijos forma, kai smegenų mielinas nesusiformuoja normaliai, todėl vėluoja vystymasis ir atsiranda judesio sutrikimų.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Ostatinės paveldimos leukodistrofijos", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodistrofija (kiti ir nenurodyti tipai)", "genes": 80, "inheritance": null, "description": "Paveldimos ligos, kurios pažeidžia mielino apvalkalą arba trukdo jam tinkamai susidaryti – smegenų ir nugaros smegenų baltąją medžiagą. Skirtingi tipai paveldimi autosominiu recesyviniu, autosominiu dominantiniu arba X chromosomos būdu, priklausomai nuo susijusio geno.", "management": "Žinodami konkrečią genetinę priežastį, galite nutraukti diagnostinę paiešką, gauti tinkamesnę palaikomąją priežiūrą ir stebėseną, sužinoti, ar yra konkretus gydymas, ir įvertinti giminaičių tikrinimo galimybes.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "brisk-reflexes", "name": "Brisk reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brisk-reflexes" }, { "slug": "cherry-red-spot-of-the-macula", "name": "Cherry red spot of the macula", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cherry-red-spot-of-the-macula" }, { "slug": "cns-hypomyelination", "name": "CNS hypomyelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cns-hypomyelination" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "spastic-diplegia", "name": "Spastic diplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-diplegia" }, { "slug": "spina-bifida-occulta", "name": "Spina bifida occulta", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spina-bifida-occulta" }, { "slug": "tethered-cord", "name": "Tethered cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tethered-cord" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/lt/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/lt/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/lt/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/lt/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/lt/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/clcn2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }