Genopathy
Gene-Disorder Association · Article
Gene
NFE2L2
NFE2 Like BZIP Transcription Factor 2
Disorder
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
First reported 2017
Supporting publications 2
Key publication · disorder Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.Nature communications · 2017
Manually curated
Association Review

In brief

The association between NFE2L2 (NFE2 Like BZIP Transcription Factor 2) and Immunodeficiency, Developmental Delay, And Hypohomocysteinemia is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 13
Symptoms 41
Compounds 0
Trials 0
Publications 2
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

5 sources

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

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03
NFE2L2

The gene

1 source summary

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

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04
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia

The disorder

8 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

25 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

13 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

2 publications

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

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09
Provenance

References & sources

10 references

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

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