EIF2B5 Chromosome 3
Eukaryotic translation initiation factor 2B subunit epsilon
Upload your DNA to see your personal genotypes for variants in EIF2B5.
What This Gene Does
This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
Associated Conditions (9)
Vanishing white matter disease
Leukoencephalopathy with vanishing white matter 5
Inborn genetic diseases
EIF2B5-related disorder
Leukoencephalopathy with vanishing white matter 1
Ovarioleukodystrophy
See cases
Leukodystrophy
Hereditary breast ovarian cancer syndrome
Key Variants
RS111933069
Conflicting classifications of pathogenicity
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5, Vanishing white matter disease
Health Risk
RS112278360
Conflicting classifications of pathogenicity
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5, Vanishing white matter disease
Health Risk
RS113994043
Conflicting classifications of pathogenicity
Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5
Health Risk
RS1290134782
Conflicting classifications of pathogenicity
Leukoencephalopathy with vanishing white matter 5, Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5
Health Risk
RS1298889640
Conflicting classifications of pathogenicity
Health Risk
RS1330413908
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS1368238343
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS138772928
Conflicting classifications of pathogenicity
Vanishing white matter disease, Inborn genetic diseases, Vanishing white matter disease
Health Risk
RS1401639769
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143156459
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS144864475
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS149264256
Conflicting classifications of pathogenicity
Vanishing white matter disease, EIF2B5-related disorder, Vanishing white matter disease
Health Risk
All Variants (117)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749256406 | Health Risk | Likely pathogenic | — |
| RS749469874 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS1030566286 | Health Risk | Pathogenic | — |
| RS113994045 | Health Risk | Pathogenic | — |
| RS113994047 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS113994048 | Health Risk | Pathogenic | Vanishing white matter disease, Inborn genetic diseases, Leukoencephalopathy with vanishing white matter 1 |
| RS113994049 | Health Risk | Pathogenic | Vanishing white matter disease, See cases, Leukoencephalopathy with vanishing white matter 5 |
| RS113994051 | Health Risk | Pathogenic | — |
| RS113994054 | Health Risk | Pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 1 |
| RS113994056 | Health Risk | Pathogenic | — |
| RS113994063 | Health Risk | Pathogenic | Vanishing white matter disease, Leukodystrophy, Vanishing white matter disease |
| RS113994069 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease, Vanishing white matter disease |
| RS113994076 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS113994083 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS113994084 | Health Risk | Pathogenic | — |
| RS1215525192 | Health Risk | Pathogenic | — |
| RS121908541 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS1257235824 | Health Risk | Pathogenic | — |
| RS1334515681 | Health Risk | Pathogenic | — |
| RS1431803321 | Health Risk | Pathogenic | — |
| RS1553807905 | Health Risk | Pathogenic | — |
| RS1713376361 | Health Risk | Pathogenic | — |
| RS1713781736 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS2109007324 | Health Risk | Pathogenic | — |
| RS2109009235 | Health Risk | Pathogenic | — |
| RS2109010145 | Health Risk | Pathogenic | — |
| RS2109010154 | Health Risk | Pathogenic | — |
| RS2109010667 | Health Risk | Pathogenic | — |
| RS2109010735 | Health Risk | Pathogenic | — |
| RS2109010897 | Health Risk | Pathogenic | — |
| RS2473659503 | Health Risk | Pathogenic | — |
| RS2473659580 | Health Risk | Pathogenic | — |
| RS2473660992 | Health Risk | Pathogenic | — |
| RS2473661266 | Health Risk | Pathogenic | — |
| RS2473661903 | Health Risk | Pathogenic | — |
| RS2473665032 | Health Risk | Pathogenic | — |
| RS2473665816 | Health Risk | Pathogenic | — |
| RS2473666139 | Health Risk | Pathogenic | — |
| RS2473669661 | Health Risk | Pathogenic | — |
| RS2473670780 | Health Risk | Pathogenic | — |
| RS2473670814 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS2473672855 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS28937596 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS377674601 | Health Risk | Pathogenic | — |
| RS397514646 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS753507995 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS754272609 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS776227815 | Health Risk | Pathogenic | — |
| RS776478626 | Health Risk | Pathogenic | — |
| RS958193703 | Health Risk | Pathogenic | Vanishing white matter disease, EIF2B5-related disorder, Vanishing white matter disease |