Genopathy
Gene-Disorder Association · Article
Gene
EIF2B5
Eukaryotic Translation Initiation Factor 2B Subunit Epsilon
Disorder
Leukoencephalopathy With Vanishing White Matter
First reported 2001
Supporting publications 53
Key publication · gene–disorder Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.Nature genetics · 2001
Key publication · disorder [Experiences with the CACH medium for the demonstration of trichomonas and yeasts in women with vaginitis].Mykosen · 1968
Manually curated
Association Review

In brief

The association between EIF2B5 (Eukaryotic Translation Initiation Factor 2B Subunit Epsilon) and Leukoencephalopathy With Vanishing White Matter is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 116
Symptoms 62
Compounds 0
Trials 0
Publications 53
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
EIF2B5

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Leukoencephalopathy With Vanishing White Matter

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

55 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

116 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

53 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

15 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access