Genopathy
Gene-Disorder Association · Article
Gene
RAC2
Rac Family Small GTPase 2
Disorder
Immunodeficiency 73a With Defective Neutrophil Chemotaxis And Leukocytosis
First reported 2000
Supporting publications 7
Key publication · gene–disorder Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.Proceedings of the National Academy of Sciences of the United States of America · 2000
Manually curated
Association Review

In brief

The association between RAC2 (Rac Family Small GTPase 2) and Immunodeficiency 73a With Defective Neutrophil Chemotaxis And Leukocytosis 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 172
Symptoms 28
Compounds 0
Trials 0
Publications 7
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
RAC2

The gene

2 source summaries

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

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04
Immunodeficiency 73a With Defective Neutrophil Chemotaxis And Leukocytosis

The disorder

13 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

14 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

172 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

7 publications

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

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09
Provenance

References & sources

16 references

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

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