{ "url": "https://dantelabs.com/tr/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": "inherited-neurodegenerative-disorders-selected-genes", "name": "Kalıtsal Nörodejeneratif Hastalıklar", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A ile İlişkili Nörodejeneratif Hastalık", "genes": 372, "inheritance": "autosomal-dominant", "description": "KIF5A genindeki bir kopyadaki değişikliklerden kaynaklanır. Bu gen, yük bağlayıcı bir kuyruğa sahip motor bir proteini kodlar. Farklı tipteki değişiklikler farklı hastalıklara yol açar: herediter spastik paraplejinin 10. tipi, Charcot-Marie-Tooth hastalığının aksonal bir formu ve amyotrofik lateral skleroz (ALS).", "management": "Tedavi semptomlara yöneliktir ve tabloya bağlıdır; fizyoterapi, antispastisite ilaçları ve multidisipliner ALS bakımını içerir. Etkilenmiş bir kişinin her çocuğunun bu değişikliği miras alma olasılığı 2'de 1'dir; genetik danışmanlık ailelerin bunu anlamasına yardımcı olur.", "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/inherited-neurodegenerative-disorders-selected-genes" }, { "slug": "leukodystrophy", "name": "Diğer Kalıtsal Lökodistrofiler", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Lökodistrofi (diğer ve belirtilmemiş tipler)", "genes": 80, "inheritance": null, "description": "Beynin ve omuriliğin beyaz maddesi olan miyelinin hasar görmesine veya normal oluşumunun engellenmesine yol açan kalıtsal hastalıklar. Tipler, ilgili gene bağlı olarak otozomal resesif, otozomal dominant veya X’e bağlı kalıtım gösterir.", "management": "Spesifik genetik nedenin bilinmesi tanı arayışını sonlandırabilir, destekleyici bakım ve izlemeye yön verebilir, belirli bir tedavinin var olup olmadığını gösterebilir ve akrabaların test edilmesine olanak tanıyabilir.", "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/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": 2, "url": "https://dantelabs.com/tr/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/tr/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 2, "url": "https://dantelabs.com/tr/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 2, "url": "https://dantelabs.com/tr/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 2, "url": "https://dantelabs.com/tr/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 2, "url": "https://dantelabs.com/tr/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/tr/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/clcn2" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }