Genopathy
Gene-Disorder Association · Article
Gene
GFI1
Growth Factor Independent 1 Transcriptional Repressor
Disorder
Severe Congenital Neutropenia
First reported 2005
Supporting publications 3
Key publication · gene–disorder Autosomal-dominant primary immunodeficiencies.Current opinion in hematology · 2005
Key publication · disorder Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria.Acta paediatrica. Supplementum · 1956
Manually curated
Association Review

In brief

The association between GFI1 (Growth Factor Independent 1 Transcriptional Repressor) and Severe Congenital Neutropenia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 9
Symptoms 0
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.

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02
Provenance

Evidence and sources

1 source

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

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03
GFI1

The gene

1 source summary

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

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04
Severe Congenital Neutropenia

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
ClinVar and variant evidence

Genetic basis

9 clinical variants

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

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06
Literature

Reading

3 publications

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

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07
Provenance

References & sources

7 references

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

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