{ "url": "https://dantelabs.com/pt/genes/rnaset2", "gene": { "slug": "rnaset2", "symbol": "RNASET2", "name": "ribonuclease T2", "hgnc": "HGNC:21686", "summary": null, "location": "6q27", "locusType": "gene with protein product", "aliases": [ "RNASE6PL", "FLJ10907", "bA514O12.3" ], "previousSymbols": [], "ensemblId": "ENSG00000026297", "entrezId": 8635, "omim": [ "612944" ], "uniprot": [ "O00584" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "6", "start": 166922113, "end": 166956550, "strand": "-", "ensemblTranscript": "ENST00000508775.6", "refseqTranscript": "NM_003730.6", "ensemblProtein": "ENSP00000426455.2", "refseqProtein": "NP_003721.2", "exons": [ { "start": 166922113, "end": 166929791 }, { "start": 166931044, "end": 166931118 }, { "start": 166934091, "end": 166934136 }, { "start": 166938895, "end": 166939008 }, { "start": 166943019, "end": 166943089 }, { "start": 166946682, "end": 166946739 }, { "start": 166948570, "end": 166948625 }, { "start": 166952488, "end": 166952548 }, { "start": 166956097, "end": 166956550 } ], "cds": { "start": 166929588, "end": 166956182 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "6", "start": 167342992, "end": 167370679, "strand": "-" }, "neighbourhood": { "release": "116", "start": 166439332, "end": 167439331, "genes": [ { "symbol": "RPS6KA2", "ensemblId": "ENSG00000071242", "biotype": "protein_coding", "start": 166409364, "end": 166906451, "strand": "-", "slug": "rps6ka2" }, { "symbol": "RAMACL", "ensemblId": "ENSG00000235272", "biotype": "protein_coding", "start": 166583009, "end": 166586678, "strand": "-", "slug": "ramacl" }, { "symbol": "", "ensemblId": "ENSG00000249141", "biotype": "protein_coding", "start": 166858094, "end": 166956124, "strand": "-" }, { "symbol": "CEP43", "ensemblId": "ENSG00000213066", "biotype": "protein_coding", "start": 166999174, "end": 167052718, "strand": "+", "slug": "cep43" }, { "symbol": "", "ensemblId": "ENSG00000272980", "biotype": "protein_coding", "start": 166999336, "end": 167139138, "strand": "+" }, { "symbol": "CCR6", "ensemblId": "ENSG00000112486", "biotype": "protein_coding", "start": 167111790, "end": 167139141, "strand": "+", "slug": "ccr6" }, { "symbol": "GPR31", "ensemblId": "ENSG00000120436", "biotype": "protein_coding", "start": 167155247, "end": 167157980, "strand": "-", "slug": "gpr31" }, { "symbol": "UNC93A", "ensemblId": "ENSG00000112494", "biotype": "protein_coding", "start": 167269010, "end": 167316028, "strand": "+", "slug": "unc93a" }, { "symbol": "TTLL2", "ensemblId": "ENSG00000120440", "biotype": "protein_coding", "start": 167325071, "end": 167359503, "strand": "+", "slug": "ttll2" } ], "truncated": false }, "reports": [ { "slug": "leukodystrophy", "name": "Outras Leucodistrofias Hereditárias", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leucodistrofia (outros tipos e tipos não especificados)", "genes": 80, "inheritance": null, "description": "Doenças hereditárias que danificam ou impedem a formação normal da mielina, a substância branca do cérebro e da medula espinal. Os diferentes tipos seguem um padrão de herança autossómica recessiva, autossómica dominante ou ligada ao X, consoante o gene envolvido.", "management": "Conhecer a causa genética específica pode pôr fim a uma pesquisa de diagnóstico, orientar os cuidados de suporte e o acompanhamento, indicar se existe um tratamento específico e permitir a realização de testes aos familiares.", "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pt/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cns-myelination", "name": "Abnormal CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cns-myelination" }, { "slug": "cerebral-calcification", "name": "Abnormal deposits of calcium in the brain", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-calcification" }, { "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": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "doll-like-facies", "name": "Doll-like facial appearance", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/doll-like-facies" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "focal-white-matter-lesions", "name": "Focal white matter lesions", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/focal-white-matter-lesions" }, { "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": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "athetosis", "name": "Involuntary writhing movements in fingers, hands, toes, and feet", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/athetosis" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "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": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/pt/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/pt/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/pt/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/pt/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/pt/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/pt/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/pt/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/clcn2" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }