{ "url": "https://dantelabs.com/sv/genes/tmem163", "gene": { "slug": "tmem163", "symbol": "TMEM163", "name": "transmembrane protein 163", "hgnc": "HGNC:25380", "summary": null, "location": "2q21.3", "locusType": "gene with protein product", "aliases": [ "DKFZP566N034", "SV31", "SLC30A11" ], "previousSymbols": [], "ensemblId": "ENSG00000152128", "entrezId": 81615, "omim": [ "618978" ], "uniprot": [ "Q8TC26" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 134455759, "end": 134719000, "strand": "-", "ensemblTranscript": "ENST00000281924.6", "refseqTranscript": "NM_030923.5", "ensemblProtein": "ENSP00000281924.6", "refseqProtein": "NP_112185.1", "exons": [ { "start": 134455759, "end": 134456776 }, { "start": 134458032, "end": 134458173 }, { "start": 134466114, "end": 134466225 }, { "start": 134502901, "end": 134502997 }, { "start": 134550570, "end": 134550661 }, { "start": 134552048, "end": 134552091 }, { "start": 134713200, "end": 134713319 }, { "start": 134718734, "end": 134719000 } ], "cds": { "start": 134456716, "end": 134718935 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 135213330, "end": 135476570, "strand": "-" }, "neighbourhood": { "release": "116", "start": 134087380, "end": 135087379, "genes": [ { "symbol": "MGAT5", "ensemblId": "ENSG00000152127", "biotype": "protein_coding", "start": 134119892, "end": 134454621, "strand": "+", "slug": "mgat5" }, { "symbol": "ACMSD", "ensemblId": "ENSG00000153086", "biotype": "protein_coding", "start": 134838312, "end": 134902910, "strand": "+", "slug": "acmsd" }, { "symbol": "CCNT2", "ensemblId": "ENSG00000082258", "biotype": "protein_coding", "start": 134918235, "end": 134999446, "strand": "+", "slug": "ccnt2" }, { "symbol": "MAP3K19", "ensemblId": "ENSG00000176601", "biotype": "protein_coding", "start": 134964485, "end": 135047468, "strand": "-", "slug": "map3k19" }, { "symbol": "RAB3GAP1", "ensemblId": "ENSG00000115839", "biotype": "protein_coding", "start": 135052265, "end": 135176667, "strand": "+", "slug": "rab3gap1" } ], "truncated": false }, "reports": [ { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Pelizaeus-Merzbacher-sjukdom och hypomyeliniserande leukodystrofier", "diseases": [ { "mondoId": "MONDO:0859378", "name": "Hypomyeliniserande leukodystrofi 25 (TMEM163)", "genes": 1, "inheritance": "autosomal-dominant", "description": "En sällsynt ärftlig form av hypomyeliniserande leukodystrofi, där myelinet i hjärnan inte bildas normalt, vilket orsakar försenad utveckling och rörelseproblem.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Ärftliga neurodegenerativa sjukdomar", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A-relaterad neurodegenerativ sjukdom", "genes": 372, "inheritance": "autosomal-dominant", "description": "Orsakas av förändringar i en kopia av KIF5A, som kodar för ett motorprotein med en svans som binder lastmolekyler. Olika typer av förändringar leder till olika tillstånd: hereditär spastisk paraplegi typ 10, en axonal form av Charcot-Marie-Tooths sjukdom och amyotrofisk lateralskleros (ALS).", "management": "Vården är symtomlindrande och beror på hur sjukdomen visar sig, och omfattar bland annat sjukgymnastik, läkemedel mot spasticitet och multidisciplinär ALS-vård. Varje barn till en drabbad person har 1 av 2 chans att ärva förändringen; genetisk rådgivning hjälper familjer att förstå detta.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/inherited-neurodegenerative-disorders-selected-genes" }, { "slug": "leukodystrophy", "name": "Andra ärftliga leukodystrofier", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrofi (andra och ej specificerade typer)", "genes": 80, "inheritance": null, "description": "Ärftliga tillstånd som skadar eller förhindrar den normala bildningen av myelin, den vita substansen i hjärnan och ryggmärgen. Olika typer följer autosomalt recessiv, autosomalt dominant eller X-kopplad nedärvning beroende på vilken gen som är inblandad.", "management": "Att känna till den specifika genetiska orsaken kan avsluta en diagnostisk sökning, vägleda stödjande vård och uppföljning, visa om en specifik behandling finns och göra det möjligt att testa släktingar.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "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": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blue-sclerae" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-cns-myelination", "name": "Delayed CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-cns-myelination" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "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": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "mild-global-developmental-delay", "name": "Mild global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-global-developmental-delay" }, { "slug": "diminished-ability-to-concentrate", "name": "Poor concentration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diminished-ability-to-concentrate" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-eye-contact" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/sv/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 2, "url": "https://dantelabs.com/sv/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 2, "url": "https://dantelabs.com/sv/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 2, "url": "https://dantelabs.com/sv/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 2, "url": "https://dantelabs.com/sv/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 2, "url": "https://dantelabs.com/sv/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/sv/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/clcn2" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }