Genopathy
Gene-Disorder Association · Article
Gene
EIF2B5
Eukaryotic Translation Initiation Factor 2B Subunit Epsilon
Disorder
Leukoencephalopathy With Vanishing White Matter 5
First reported 2002
Supporting publications 11
Key publication · gene–disorder Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.Annals of neurology · 2002
Key publication · disorder Columnar cell-lined esophagus: assessment of etiology and treatment. A 22 year experience.The Journal of thoracic and cardiovascular surgery · 1976
Manually curated
Association Review

In brief

The association between EIF2B5 (Eukaryotic Translation Initiation Factor 2B Subunit Epsilon) and Leukoencephalopathy With Vanishing White Matter 5 is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 45
Symptoms 34
Compounds 0
Trials 0
Publications 11
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

4 sources

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

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03
EIF2B5

The gene

1 source summary

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

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04
Leukoencephalopathy With Vanishing White Matter 5

The disorder

10 database identifiers

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

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05
Phenotype

Clinical features

8 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

45 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

11 publications

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

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09
Provenance

References & sources

14 references

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

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