Genopathy
Gene-Disorder Association · Article
Gene
EGR2
Early Growth Response 2
Disorder
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
First reported 1998
Supporting publications 3
Key publication · gene–disorder Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.Nature genetics · 1998
Key publication · disorder A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies.Archives of neurology · 1977
Manually curated
Association Review

In brief

The association between EGR2 (Early Growth Response 2) and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 10
Symptoms 20
Compounds 0
Trials 0
Publications 3
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
EGR2

The gene

1 source summary

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

Request access
04
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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

12 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

10 clinical variants

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

Request access
07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

Request access
08
Mechanism overlap

Shared mechanisms

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

Request access
09
Literature

Reading

3 publications

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

Request access
10
Provenance

References & sources

10 references

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

Request access