{ "url": "https://dantelabs.com/fr/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": "Maladie de Pelizaeus-Merzbacher et leucodystrophies hypomyélinisantes", "diseases": [ { "mondoId": "MONDO:0859378", "name": "Leucodystrophie hypomyélinisante 25 (TMEM163)", "genes": 1, "inheritance": "autosomal-dominant", "description": "Forme héréditaire rare de leucodystrophie hypomyélinisante, dans laquelle la myéline du cerveau ne se forme pas normalement, entraînant un retard de développement et des troubles du mouvement.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Maladies neurodégénératives héréditaires", "diseases": [ { "mondoId": "MONDO:0024237", "name": "Maladie neurodégénérative liée à KIF5A", "genes": 372, "inheritance": "autosomal-dominant", "description": "Causée par des modifications d'une copie du gène KIF5A, qui code une protéine motrice dotée d'une queue de liaison à sa cargaison. Différents types de modifications entraînent différentes affections : la paraplégie spastique héréditaire de type 10, une forme axonale de la maladie de Charcot-Marie-Tooth et la sclérose latérale amyotrophique (SLA).", "management": "La prise en charge est symptomatique et dépend de la forme clinique ; elle comprend la kinésithérapie, des médicaments contre la spasticité et un suivi pluridisciplinaire de la SLA. Chaque enfant d'une personne atteinte a une chance sur 2 d'hériter de la modification ; le conseil génétique aide les familles à comprendre ce risque.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/inherited-neurodegenerative-disorders-selected-genes" }, { "slug": "leukodystrophy", "name": "Autres leucodystrophies héréditaires", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leucodystrophie (autres types et types non précisés)", "genes": 80, "inheritance": null, "description": "Maladies héréditaires qui altèrent ou empêchent la formation normale de la myéline, la substance blanche du cerveau et de la moelle épinière. Selon le gène concerné, les différents types suivent une hérédité autosomique récessive, autosomique dominante ou liée à l'X.", "management": "Connaître la cause génétique précise peut mettre fin à une recherche diagnostique, guider les soins de soutien et la surveillance, indiquer s'il existe un traitement spécifique et permettre le dépistage des apparentés.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/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/fr/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/fr/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 2, "url": "https://dantelabs.com/fr/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 2, "url": "https://dantelabs.com/fr/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 2, "url": "https://dantelabs.com/fr/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 2, "url": "https://dantelabs.com/fr/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 2, "url": "https://dantelabs.com/fr/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/fr/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/clcn2" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }