{ "url": "https://dantelabs.com/sv/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": "Vanishing White Matter-sjukdom", "diseases": [ { "mondoId": "MONDO:0800448", "name": "Leukoencefalopati med vanishing white matter (EIF2B1 till EIF2B5)", "genes": 6, "inheritance": "autosomal-recessive", "description": "Orsakar progressiv ataxi och spasticitet med trappstegsvis försämring efter påfrestningar som feber eller huvudskada; debuten varierar från före födseln till vuxen ålder, och vissa kvinnor har dessutom tidig ovarialsvikt.", "management": "Om du känner till diagnosen kan du och din familj förebygga och snabbt behandla feber och infektioner samt undvika huvudskador, eftersom dessa kan utlösa episoder av försämring.", "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/sv/conditions/vanishing-white-matter-disease" }, { "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": [ "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/sv/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/sv/genes/aars2" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/sv/genes/eif2b1" }, { "slug": "eif2b2", "symbol": "EIF2B2", "name": "eukaryotic translation initiation factor 2B subunit beta", "shared": 2, "url": "https://dantelabs.com/sv/genes/eif2b2" }, { "slug": "eif2b3", "symbol": "EIF2B3", "name": "eukaryotic translation initiation factor 2B subunit gamma", "shared": 2, "url": "https://dantelabs.com/sv/genes/eif2b3" }, { "slug": "eif2b4", "symbol": "EIF2B4", "name": "eukaryotic translation initiation factor 2B subunit delta", "shared": 2, "url": "https://dantelabs.com/sv/genes/eif2b4" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/aars1" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/sv/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/sv/genes/aldh3a2" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }