{ "url": "https://dantelabs.com/fr/genes/eif2b1", "gene": { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "hgnc": "HGNC:3257", "summary": null, "location": "12q24.31", "locusType": "gene with protein product", "aliases": [ "EIF-2Balpha", "EIF-2B", "EIF2BA", "EIF2Balpha" ], "previousSymbols": [ "EIF2B" ], "ensemblId": "ENSG00000111361", "entrezId": 1967, "omim": [ "606686" ], "uniprot": [ "Q14232" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 123620406, "end": 123633686, "strand": "-", "ensemblTranscript": "ENST00000424014.7", "refseqTranscript": "NM_001414.4", "ensemblProtein": "ENSP00000416250.2", "refseqProtein": "NP_001405.1", "exons": [ { "start": 123620406, "end": 123621920 }, { "start": 123622636, "end": 123622761 }, { "start": 123624787, "end": 123624862 }, { "start": 123626425, "end": 123626493 }, { "start": 123627044, "end": 123627156 }, { "start": 123630169, "end": 123630285 }, { "start": 123630397, "end": 123630533 }, { "start": 123632345, "end": 123632446 }, { "start": 123633545, "end": 123633686 } ], "cds": { "start": 123621756, "end": 123633557 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 124104953, "end": 124118313, "strand": "-" }, "neighbourhood": { "release": "116", "start": 123127046, "end": 124127045, "genes": [ { "symbol": "PITPNM2", "ensemblId": "ENSG00000090975", "biotype": "protein_coding", "start": 122983480, "end": 123151666, "strand": "-", "slug": "pitpnm2" }, { "symbol": "MPHOSPH9", "ensemblId": "ENSG00000051825", "biotype": "protein_coding", "start": 123152320, "end": 123244014, "strand": "-", "slug": "mphosph9" }, { "symbol": "MTRFR", "ensemblId": "ENSG00000130921", "biotype": "protein_coding", "start": 123232142, "end": 123258079, "strand": "+", "slug": "mtrfr" }, { "symbol": "CDK2AP1", "ensemblId": "ENSG00000111328", "biotype": "protein_coding", "start": 123250112, "end": 123272334, "strand": "-", "slug": "cdk2ap1" }, { "symbol": "SBNO1", "ensemblId": "ENSG00000139697", "biotype": "protein_coding", "start": 123289109, "end": 123365220, "strand": "-", "slug": "sbno1" }, { "symbol": "KMT5A", "ensemblId": "ENSG00000183955", "biotype": "protein_coding", "start": 123384087, "end": 123409353, "strand": "+", "slug": "kmt5a" }, { "symbol": "RILPL2", "ensemblId": "ENSG00000150977", "biotype": "protein_coding", "start": 123409258, "end": 123436756, "strand": "-", "slug": "rilpl2" }, { "symbol": "SNRNP35", "ensemblId": "ENSG00000184209", "biotype": "protein_coding", "start": 123458078, "end": 123473154, "strand": "+", "slug": "snrnp35" }, { "symbol": "RILPL1", "ensemblId": "ENSG00000188026", "biotype": "protein_coding", "start": 123467802, "end": 123534417, "strand": "-", "slug": "rilpl1" }, { "symbol": "TMED2", "ensemblId": "ENSG00000086598", "biotype": "protein_coding", "start": 123584514, "end": 123598582, "strand": "+", "slug": "tmed2" }, { "symbol": "DDX55", "ensemblId": "ENSG00000111364", "biotype": "protein_coding", "start": 123602073, "end": 123620943, "strand": "+", "slug": "ddx55" }, { "symbol": "GTF2H3", "ensemblId": "ENSG00000111358", "biotype": "protein_coding", "start": 123633739, "end": 123662604, "strand": "+", "slug": "gtf2h3" }, { "symbol": "TCTN2", "ensemblId": "ENSG00000168778", "biotype": "protein_coding", "start": 123671110, "end": 123708403, "strand": "+", "slug": "tctn2" }, { "symbol": "ATP6V0A2", "ensemblId": "ENSG00000185344", "biotype": "protein_coding", "start": 123712334, "end": 123761760, "strand": "+", "slug": "atp6v0a2" }, { "symbol": "DNAH10", "ensemblId": "ENSG00000197653", "biotype": "protein_coding", "start": 123761878, "end": 123935720, "strand": "+", "slug": "dnah10" }, { "symbol": "CCDC92", "ensemblId": "ENSG00000119242", "biotype": "protein_coding", "start": 123918660, "end": 123974253, "strand": "-", "slug": "ccdc92" }, { "symbol": "ZNF664", "ensemblId": "ENSG00000179195", "biotype": "protein_coding", "start": 123971745, "end": 124015445, "strand": "+", "slug": "znf664" }, { "symbol": "RFLNA", "ensemblId": "ENSG00000178882", "biotype": "protein_coding", "start": 123973241, "end": 124316024, "strand": "+", "slug": "rflna" } ], "truncated": false }, "reports": [ { "slug": "diabetes-mellitus", "name": "Diabète sucré", "diseases": [ { "mondoId": "MONDO:0005015", "name": "Diabète sucré", "genes": 31, "inheritance": null, "description": "Trouble métabolique caractérisé par une glycémie anormalement élevée, résultant d'une diminution de la production d'insuline ou d'une résistance/désensibilisation à l'insuline.", "management": "Teplizumab (Tzield) pour le DT1 présymptomatique de stade 2 (approuvé par la FDA en 2022) ; insulinothérapie substitutive dès le début clinique du DT1 ; dépistage des auto-anticorps TrialNet pour les proches à haut risque ; systèmes de délivrance d'insuline en boucle fermée", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/diabetes-mellitus" }, { "slug": "neonatal-diabetes-mellitus", "name": "Diabète néonatal", "diseases": [ { "mondoId": "MONDO:0016391", "name": "Diabète néonatal", "genes": 20, "inheritance": null, "description": "Diabète diagnostiqué au cours des premiers mois de vie, permanent ou transitoire, causé par des anomalies d'un seul gène affectant la production ou la sécrétion d'insuline.", "management": "La plupart des personnes atteintes d'un diabète néonatal lié à KCNJ11 ou ABCC8 peuvent passer des injections d'insuline à des comprimés de sulfonylurées, souvent avec un meilleur contrôle de la glycémie.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/neonatal-diabetes-mellitus" }, { "slug": "vanishing-white-matter-disease", "name": "Maladie de la substance blanche évanescente", "diseases": [ { "mondoId": "MONDO:0800448", "name": "Leucoencéphalopathie à substance blanche évanescente (EIF2B1 à EIF2B5)", "genes": 6, "inheritance": "autosomal-recessive", "description": "Entraîne une ataxie et une spasticité progressives, avec une détérioration par paliers après des facteurs de stress tels que la fièvre ou un traumatisme crânien ; l'apparition va de la période prénatale à l'âge adulte, et certaines femmes présentent également une insuffisance ovarienne précoce.", "management": "Connaître le diagnostic permet aux familles de prévenir et de traiter rapidement la fièvre et les infections, et d'éviter les traumatismes crâniens, qui peuvent déclencher des épisodes de détérioration.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/vanishing-white-matter-disease" }, { "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", "Genomics England PanelApp", "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" }, { "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": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "cerebral-hypomyelination", "name": "Cerebral hypomyelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-hypomyelination" }, { "slug": "cns-demyelination", "name": "CNS demyelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cns-demyelination" }, { "slug": "decreased-circulating-progesterone", "name": "Decreased serum progesterone", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/decreased-circulating-progesterone" }, { "slug": "delusion", "name": "Delusions", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delusion" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/fever" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "gliosis", "name": "Gliosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gliosis" }, { "slug": "cessation-of-head-growth", "name": "Head stopped growing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cessation-of-head-growth" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "personality-changes", "name": "Personality changes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/personality-changes" }, { "slug": "secondary-amenorrhea", "name": "Previous menstrual periods stop", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/secondary-amenorrhea" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "slug": "primary-gonadal-insufficiency", "name": "Primary gonadal insufficiency", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/primary-gonadal-insufficiency" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/unsteady-gait" } ], "related": [ { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 3, "url": "https://dantelabs.com/fr/genes/aars2" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 3, "url": "https://dantelabs.com/fr/genes/bscl2" }, { "slug": "eif2b2", "symbol": "EIF2B2", "name": "eukaryotic translation initiation factor 2B subunit beta", "shared": 3, "url": "https://dantelabs.com/fr/genes/eif2b2" }, { "slug": "eif2b3", "symbol": "EIF2B3", "name": "eukaryotic translation initiation factor 2B subunit gamma", "shared": 3, "url": "https://dantelabs.com/fr/genes/eif2b3" }, { "slug": "eif2b4", "symbol": "EIF2B4", "name": "eukaryotic translation initiation factor 2B subunit delta", "shared": 3, "url": "https://dantelabs.com/fr/genes/eif2b4" }, { "slug": "eif2b5", "symbol": "EIF2B5", "name": "eukaryotic translation initiation factor 2B subunit epsilon", "shared": 3, "url": "https://dantelabs.com/fr/genes/eif2b5" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/aars1" }, { "slug": "abcc8", "symbol": "ABCC8", "name": "ATP binding cassette subfamily C member 8", "shared": 2, "url": "https://dantelabs.com/fr/genes/abcc8" }, { "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" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }