{ "url": "https://dantelabs.com/nl/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-ziekte en hypomyeliniserende leukodystrofieën", "diseases": [ { "mondoId": "MONDO:0014115", "name": "Hypomyelinisatie met betrokkenheid van de hersenstam en het ruggenmerg en spasticiteit van de benen (DARS1)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Een zeldzame erfelijke vorm van hypomyeliniserende leukodystrofie, waarbij de myeline in de hersenen niet normaal wordt gevormd, wat leidt tot vertraagde ontwikkeling en bewegingsproblemen.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Overige erfelijke leukodystrofieën", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrofie (overige en niet-gespecificeerde typen)", "genes": 80, "inheritance": null, "description": "Erfelijke aandoeningen die de vorming van myeline, de witte stof van de hersenen en het ruggenmerg, beschadigen of normale vorming verhinderen. Afhankelijk van het betrokken gen volgen de verschillende typen autosomaal recessieve, autosomaal dominante of X-gebonden overerving.", "management": "Het kennen van de specifieke genetische oorzaak kan een diagnostisch zoektraject beëindigen, de ondersteunende zorg en controles sturen, laten zien of een specifieke behandeling bestaat, en het mogelijk maken familieleden te testen.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/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/nl/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/nl/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/nl/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/nl/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/nl/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/nl/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/nl/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/clcn2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }