{ "url": "https://dantelabs.com/fr/genes/tmem126a", "gene": { "slug": "tmem126a", "symbol": "TMEM126A", "name": "transmembrane protein 126A", "hgnc": "HGNC:25382", "summary": null, "location": "11q14.1", "locusType": "gene with protein product", "aliases": [ "DKFZp586C1924", "OPA7" ], "previousSymbols": [], "ensemblId": "ENSG00000171202", "entrezId": 84233, "omim": [ "612988" ], "uniprot": [ "Q9H061" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 85647967, "end": 85656542, "strand": "+", "ensemblTranscript": "ENST00000304511.7", "refseqTranscript": "NM_032273.4", "ensemblProtein": "ENSP00000306887.2", "refseqProtein": "NP_115649.1", "exons": [ { "start": 85647967, "end": 85648089 }, { "start": 85650249, "end": 85650341 }, { "start": 85654063, "end": 85654256 }, { "start": 85655594, "end": 85655708 }, { "start": 85656309, "end": 85656542 } ], "cds": { "start": 85650256, "end": 85656501 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 85359011, "end": 85367591, "strand": "+" }, "neighbourhood": { "release": "116", "start": 85152255, "end": 86152254, "genes": [ { "symbol": "DLG2", "ensemblId": "ENSG00000150672", "biotype": "protein_coding", "start": 83455012, "end": 85628399, "strand": "-", "slug": "dlg2" }, { "symbol": "TMEM126B", "ensemblId": "ENSG00000171204", "biotype": "protein_coding", "start": 85628556, "end": 85638965, "strand": "+", "slug": "tmem126b" }, { "symbol": "CREBZF", "ensemblId": "ENSG00000137504", "biotype": "protein_coding", "start": 85657742, "end": 85682908, "strand": "-", "slug": "crebzf" }, { "symbol": "CCDC89", "ensemblId": "ENSG00000179071", "biotype": "protein_coding", "start": 85683848, "end": 85686195, "strand": "-", "slug": "ccdc89" }, { "symbol": "SYTL2", "ensemblId": "ENSG00000137501", "biotype": "protein_coding", "start": 85694224, "end": 85811182, "strand": "-", "slug": "sytl2" }, { "symbol": "CCDC83", "ensemblId": "ENSG00000150676", "biotype": "protein_coding", "start": 85828907, "end": 85920021, "strand": "+", "slug": "ccdc83" }, { "symbol": "PICALM", "ensemblId": "ENSG00000073921", "biotype": "protein_coding", "start": 85957157, "end": 86069882, "strand": "-", "slug": "picalm" } ], "truncated": false }, "reports": [ { "slug": "hereditary-optic-neuropathy", "name": "Neuropathie optique héréditaire", "diseases": [ { "mondoId": "MONDO:0043878", "name": "Atrophie optique héréditaire", "genes": 13, "inheritance": null, "description": "Perte héréditaire des fibres du nerf optique, most souvent l'atrophie optique autosomique dominante causée par des variants de OPA1, et comprenant des formes plus rares causées par OPA3, DNM1L, SSBP1 et d'autres gènes.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/hereditary-optic-neuropathy" }, { "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": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "central-scotoma", "name": "Blind spot located at fixation point", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/central-scotoma" }, { "slug": "dyschromatopsia", "name": "Color blindness", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/dyschromatopsia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "constriction-of-peripheral-visual-field", "name": "Limited peripheral vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/pallor" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "aco2", "symbol": "ACO2", "name": "aconitase 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/aco2" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/afg3l2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 2, "url": "https://dantelabs.com/fr/genes/atp1a3" }, { "slug": "dnm1l", "symbol": "DNM1L", "name": "dynamin 1L", "shared": 2, "url": "https://dantelabs.com/fr/genes/dnm1l" }, { "slug": "mt-nd1", "symbol": "MT-ND1", "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/mt-nd1" }, { "slug": "mt-nd4", "symbol": "MT-ND4", "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4", "shared": 2, "url": "https://dantelabs.com/fr/genes/mt-nd4" }, { "slug": "mt-nd5", "symbol": "MT-ND5", "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5", "shared": 2, "url": "https://dantelabs.com/fr/genes/mt-nd5" }, { "slug": "mt-nd6", "symbol": "MT-ND6", "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6", "shared": 2, "url": "https://dantelabs.com/fr/genes/mt-nd6" }, { "slug": "opa1", "symbol": "OPA1", "name": "OPA1 mitochondrial dynamin like GTPase", "shared": 2, "url": "https://dantelabs.com/fr/genes/opa1" }, { "slug": "opa3", "symbol": "OPA3", "name": "outer mitochondrial membrane lipid metabolism regulator OPA3", "shared": 2, "url": "https://dantelabs.com/fr/genes/opa3" }, { "slug": "rtn4ip1", "symbol": "RTN4IP1", "name": "reticulon 4 interacting protein 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/rtn4ip1" }, { "slug": "ssbp1", "symbol": "SSBP1", "name": "single stranded DNA binding protein 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/ssbp1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }