{ "url": "https://dantelabs.com/ro/genes/eif2b5", "gene": { "slug": "eif2b5", "symbol": "EIF2B5", "name": "eukaryotic translation initiation factor 2B subunit epsilon", "hgnc": "HGNC:3261", "summary": null, "location": "3q27.1", "locusType": "gene with protein product", "aliases": [ "EIF2Bepsilon", "EIF-2B" ], "previousSymbols": [], "ensemblId": "ENSG00000145191", "entrezId": 8893, "omim": [ "603945" ], "uniprot": [ "Q13144" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 184135358, "end": 184145311, "strand": "+", "ensemblTranscript": "ENST00000648915.2", "refseqTranscript": "NM_003907.3", "ensemblProtein": "ENSP00000497160.1", "refseqProtein": "NP_003898.2", "exons": [ { "start": 184135358, "end": 184135580 }, { "start": 184136612, "end": 184136736 }, { "start": 184137620, "end": 184137805 }, { "start": 184137898, "end": 184138075 }, { "start": 184138166, "end": 184138246 }, { "start": 184140080, "end": 184140157 }, { "start": 184140418, "end": 184140730 }, 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"htr3e" }, { "symbol": "DVL3", "ensemblId": "ENSG00000161202", "biotype": "protein_coding", "start": 184155159, "end": 184173616, "strand": "+", "slug": "dvl3" }, { "symbol": "AP2M1", "ensemblId": "ENSG00000161203", "biotype": "protein_coding", "start": 184174689, "end": 184184214, "strand": "+", "slug": "ap2m1" }, { "symbol": "ABCF3", "ensemblId": "ENSG00000161204", "biotype": "protein_coding", "start": 184186095, "end": 184194451, "strand": "+", "slug": "abcf3" }, { "symbol": "VWA5B2", "ensemblId": "ENSG00000145198", "biotype": "protein_coding", "start": 184228996, "end": 184242342, "strand": "+", "slug": "vwa5b2" }, { "symbol": "ALG3", "ensemblId": "ENSG00000214160", "biotype": "protein_coding", "start": 184242301, "end": 184249571, "strand": "-", "slug": "alg3" }, { "symbol": "EEF1AKMT4", "ensemblId": "ENSG00000284753", "biotype": "protein_coding", "start": 184249609, "end": 184258759, "strand": "+", "slug": "eef1akmt4" }, { "symbol": "EEF1AKMT4-ECE2", "ensemblId": "ENSG00000284917", "biotype": "protein_coding", "start": 184249695, "end": 184293031, "strand": "+", "slug": "eef1akmt4-ece2" }, { "symbol": "CAMK2N2", "ensemblId": "ENSG00000163888", "biotype": "protein_coding", "start": 184259213, "end": 184261602, "strand": "-", "slug": "camk2n2" }, { "symbol": "ECE2", "ensemblId": "ENSG00000145194", "biotype": "protein_coding", "start": 184275531, "end": 184293031, "strand": "+", "slug": "ece2" }, { "symbol": "PSMD2", "ensemblId": "ENSG00000175166", "biotype": "protein_coding", "start": 184299157, "end": 184309054, "strand": "+", "slug": "psmd2" }, { "symbol": "EIF4G1", "ensemblId": "ENSG00000114867", "biotype": "protein_coding", "start": 184314490, "end": 184335358, "strand": "+", "slug": "eif4g1" }, { "symbol": "FAM131A", "ensemblId": "ENSG00000175182", "biotype": "protein_coding", "start": 184335916, "end": 184348421, "strand": "+", "slug": "fam131a" }, { "symbol": "CLCN2", "ensemblId": "ENSG00000114859", "biotype": "protein_coding", "start": 184346185, "end": 184363274, "strand": "-", "slug": "clcn2" }, { "symbol": "POLR2H", "ensemblId": "ENSG00000163882", "biotype": "protein_coding", "start": 184360856, "end": 184368596, "strand": "+", "slug": "polr2h" }, { "symbol": "THPO", "ensemblId": "ENSG00000090534", "biotype": "protein_coding", "start": 184367389, "end": 184381968, "strand": "-", "slug": "thpo" }, { "symbol": "CHRD", "ensemblId": "ENSG00000090539", "biotype": "protein_coding", "start": 184379381, "end": 184390736, "strand": "+", "slug": "chrd" }, { "symbol": "EPHB3", "ensemblId": "ENSG00000182580", "biotype": "protein_coding", "start": 184561751, "end": 184582408, "strand": "+", "slug": "ephb3" } ], "truncated": false }, "reports": [ { "slug": "vanishing-white-matter-disease", "name": "Boala substanței albe dispărute", "diseases": [ { "mondoId": "MONDO:0800448", "name": "Leucoencefalopatie cu dispariția substanței albe (EIF2B1 până la EIF2B5)", "genes": 6, "inheritance": "autosomal-recessive", "description": "Provoacă ataxie progresivă și spasticitate, cu declin în trepte după factori de stres precum febra sau traumatismele craniene; debutul poate varia de la perioada prenatală până la vârsta adultă, iar unele femei prezintă și insuficiență ovariană precoce.", "management": "Cunoașterea diagnosticului le permite familiilor să prevină și să trateze prompt febra și infecțiile și să evite traumatismele craniene, care pot declanșa episoade de declin.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/vanishing-white-matter-disease" }, { "slug": "leukodystrophy", "name": "Alte leucodistrofii ereditare", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leucodistrofie (alte tipuri și tipuri nespecificate)", "genes": 80, "inheritance": null, "description": "Afecțiuni ereditare care deteriorează sau împiedică formarea normală a mielinei, adică a substanței albe a creierului și a măduvei spinării. Tipurile diferite urmează moștenire autozomal recesivă, autozomal dominantă sau legată de cromozomul X, în funcție de genele implicate.", "management": "Cunoașterea cauzei genetice specifice poate pune capăt unei căutări de diagnostic, poate ghida îngrijirea de susținere și monitorizarea, poate arăta dacă există un tratament specific și poate permite testarea rudelor.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebral-white-matter-morphology", "name": "Abnormal cerebral white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coma" }, { "slug": "decreased-csf-asialotransferrin-to-transferrin-ratio", "name": "Decreased CSF asialotransferrin to transferrin ratio", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-csf-asialotransferrin-to-transferrin-ratio" }, { "slug": "dilated-third-ventricle", "name": "Dilated third ventricle", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-third-ventricle" }, { "slug": "megalencephaly", "name": "Enlarged brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/megalencephaly" }, { "slug": "lateral-ventricle-dilatation", "name": "Lateral ventricle dilatation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "progressive-neurologic-deterioration", "name": "Worsening neurological symptoms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration" } ], "related": [ { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/ro/genes/aars2" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/ro/genes/eif2b1" }, { "slug": "eif2b2", "symbol": "EIF2B2", "name": "eukaryotic translation initiation factor 2B subunit beta", "shared": 2, "url": "https://dantelabs.com/ro/genes/eif2b2" }, { "slug": "eif2b3", "symbol": "EIF2B3", "name": "eukaryotic translation initiation factor 2B subunit gamma", "shared": 2, "url": "https://dantelabs.com/ro/genes/eif2b3" }, { "slug": "eif2b4", "symbol": "EIF2B4", "name": "eukaryotic translation initiation factor 2B subunit delta", "shared": 2, "url": "https://dantelabs.com/ro/genes/eif2b4" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aars1" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/ro/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/ro/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/ro/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/ro/genes/aldh3a2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }