Genopathy
Gene-Disorder Association · Article
Gene
DOP1A
DOP1 Leucine Zipper Like Protein A
Disorder
Immunodeficiency 23
First reported 2014
Supporting publications 7
Key publication · gene–disorder PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.American journal of human genetics · 2014
Key publication · disorder Recurrent bacterial infections in four siblings with neutropenia, eosinophilia, hyperimmunoglobulinemia A, and defective neutrophil chemotaxis.The Journal of infectious diseases · 1976
Manually curated
Association Review

In brief

The association between DOP1A (DOP1 Leucine Zipper Like Protein A) and Immunodeficiency 23 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 72
Symptoms 129
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

1 source

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

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03
DOP1A

The gene

1 source summary

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

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04
Immunodeficiency 23

The disorder

12 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

86 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

72 clinical variants

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

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07
Literature

Reading

7 publications

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

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08
Provenance

References & sources

13 references

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

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