{ "url": "https://dantelabs.com/hu/genes/eif2b3", "gene": { "slug": "eif2b3", "symbol": "EIF2B3", "name": "eukaryotic translation initiation factor 2B subunit gamma", "hgnc": "HGNC:3259", "summary": null, "location": "1p34.1", "locusType": "gene with protein product", "aliases": [ "EIF2Bgamma", "EIF-2B" ], "previousSymbols": [], "ensemblId": "ENSG00000070785", "entrezId": 8891, "omim": [ "606273" ], "uniprot": [ "Q9NR50" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 44850522, "end": 44986595, "strand": "-", "ensemblTranscript": "ENST00000360403.7", "refseqTranscript": "NM_020365.5", "ensemblProtein": "ENSP00000353575.2", "refseqProtein": "NP_065098.1", "exons": [ { "start": 44850522, "end": 44851003 }, { "start": 44857704, "end": 44857807 }, { "start": 44874678, "end": 44874826 }, { "start": 44875618, "end": 44875695 }, { "start": 44879818, "end": 44880008 }, { "start": 44881612, "end": 44881739 }, { "start": 44897355, "end": 44897444 }, { "start": 44926628, "end": 44926739 }, { "start": 44941506, "end": 44941665 }, { "start": 44978315, "end": 44978460 }, { "start": 44981021, "end": 44981177 }, { "start": 44986493, "end": 44986595 } ], "cds": { "start": 44850951, "end": 44981168 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 45316450, "end": 45452282, "strand": "-" }, "neighbourhood": { "release": "116", "start": 44418559, "end": 45418558, "genes": [ { "symbol": "RNF220", "ensemblId": "ENSG00000187147", "biotype": "protein_coding", "start": 44405142, "end": 44651724, "strand": "+", "slug": "rnf220" }, { "symbol": "TMEM53", "ensemblId": "ENSG00000126106", "biotype": "protein_coding", "start": 44635237, "end": 44674619, "strand": "-", "slug": "tmem53" }, { "symbol": "ARMH1", "ensemblId": "ENSG00000198520", "biotype": "protein_coding", "start": 44674692, "end": 44725591, "strand": "+", "slug": "armh1" }, { "symbol": "KIF2C", "ensemblId": "ENSG00000142945", "biotype": "protein_coding", "start": 44739810, "end": 44767767, "strand": "+", "slug": "kif2c" }, { "symbol": "RPS8", "ensemblId": "ENSG00000142937", "biotype": "protein_coding", "start": 44775251, "end": 44779124, "strand": "+", "slug": "rps8" }, { "symbol": "BEST4", "ensemblId": "ENSG00000142959", "biotype": "protein_coding", "start": 44781836, "end": 44791550, "strand": "-", "slug": "best4" }, { "symbol": "PLK3", "ensemblId": "ENSG00000173846", "biotype": "protein_coding", "start": 44799915, "end": 44805995, "strand": "+", "slug": "plk3" }, { "symbol": "DYNLT4", "ensemblId": "ENSG00000188396", "biotype": "protein_coding", "start": 44805885, "end": 44807417, "strand": "-", "slug": "dynlt4" }, { "symbol": "BTBD19", "ensemblId": "ENSG00000222009", "biotype": "protein_coding", "start": 44808506, "end": 44817381, "strand": "+", "slug": "btbd19" }, { "symbol": "PTCH2", "ensemblId": "ENSG00000117425", "biotype": "protein_coding", "start": 44819154, "end": 44843253, "strand": "-", "slug": "ptch2" }, { "symbol": "HECTD3", "ensemblId": "ENSG00000126107", "biotype": "protein_coding", "start": 45002540, "end": 45011369, "strand": "-", "slug": "hectd3" }, { "symbol": "UROD", "ensemblId": "ENSG00000126088", "biotype": "protein_coding", "start": 45010950, "end": 45015577, "strand": "+", "slug": "urod" }, { "symbol": "ZSWIM5", "ensemblId": "ENSG00000162415", "biotype": "protein_coding", "start": 45016395, "end": 45306209, "strand": "-", "slug": "zswim5" }, { "symbol": "HPDL", "ensemblId": "ENSG00000186603", "biotype": "protein_coding", "start": 45326895, "end": 45328710, "strand": "+", "slug": "hpdl" }, { "symbol": "MUTYH", "ensemblId": "ENSG00000132781", "biotype": "protein_coding", "start": 45329163, "end": 45340893, "strand": "-", "slug": "mutyh" }, { "symbol": "", "ensemblId": "ENSG00000288208", "biotype": "protein_coding", "start": 45329262, "end": 45491155, "strand": "-" }, { "symbol": "TOE1", "ensemblId": "ENSG00000132773", "biotype": "protein_coding", "start": 45339938, "end": 45345623, "strand": "+", "slug": "toe1" }, { "symbol": "TESK2", "ensemblId": "ENSG00000070759", "biotype": "protein_coding", "start": 45343877, "end": 45491203, "strand": "-", "slug": "tesk2" } ], "truncated": false }, "reports": [ { "slug": "vanishing-white-matter-disease", "name": "Vanishing White Matter Disease", "diseases": [ { "mondoId": "MONDO:0800448", "name": "Leukoencephalopathy with vanishing white matter (EIF2B1 to EIF2B5)", "genes": 6, "inheritance": "autosomal-recessive", "description": "Causes progressive ataxia and spasticity with stepwise decline after stresses such as fever or head trauma; onset ranges from before birth to adulthood, and some women also have early ovarian failure.", "management": "Knowing the diagnosis allows families to prevent and promptly treat fever and infections and avoid head injury, which can trigger episodes of decline.", "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/hu/conditions/vanishing-white-matter-disease" }, { "slug": "leukodystrophy", "name": "Other Inherited Leukodystrophies", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrophy (other and unspecified types)", "genes": 80, "inheritance": null, "description": "Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.", "management": "Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.", "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/hu/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hemianopia", "name": "Hemianopia", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hemianopia" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "secondary-amenorrhea", "name": "Previous menstrual periods stop", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/secondary-amenorrhea" } ], "related": [ { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/hu/genes/aars2" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/hu/genes/eif2b1" }, { "slug": "eif2b2", "symbol": "EIF2B2", "name": "eukaryotic translation initiation factor 2B subunit beta", "shared": 2, "url": "https://dantelabs.com/hu/genes/eif2b2" }, { "slug": "eif2b4", "symbol": "EIF2B4", "name": "eukaryotic translation initiation factor 2B subunit delta", "shared": 2, "url": "https://dantelabs.com/hu/genes/eif2b4" }, { "slug": "eif2b5", "symbol": "EIF2B5", "name": "eukaryotic translation initiation factor 2B subunit epsilon", "shared": 2, "url": "https://dantelabs.com/hu/genes/eif2b5" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/aars1" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/hu/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/hu/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/hu/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/hu/genes/aldh3a2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }