Genopathy
Gene-Disorder Association · Article
Gene
EIF2B5
Eukaryotic Translation Initiation Factor 2B Subunit Epsilon
Disorder
Leukoencephalopathy With Vanishing White Matter 1
First reported 1968
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 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 7
Symptoms 33
Compounds 0
Trials 0
Publications 0
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 1

The disorder

17 database identifiers

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

Request access
05
Phenotype

Clinical features

27 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

7 clinical variants

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

Request access
07
Provenance

References & sources

7 references

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

Request access