Genopathy
Gene-Disorder Association · Article
Gene
ELANE
Elastase, Neutrophil Expressed
Disorder
Neutropenia, Severe Congenital, 1, Autosomal Dominant
First reported 2001
Supporting publications 64
Key publication · gene–disorder Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.Blood · 2001
Key publication · disorder Infantile agranulocytosis of probably congenital origin.Acta paediatrica · 1959
Manually curated
Association Review

In brief

The association between ELANE (Elastase, Neutrophil Expressed) and Neutropenia, Severe Congenital, 1, Autosomal Dominant is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 449
Symptoms 18
Compounds 0
Trials 0
Publications 64
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
ELANE

The gene

1 source summary

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

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04
Neutropenia, Severe Congenital, 1, Autosomal Dominant

The disorder

6 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

10 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

449 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

64 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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