Genopathy
Gene-Disorder Association · Article
Gene
COPZ1
Coat Protein Complex I Subunit Zeta 1
Disorder
Neutropenia, Severe Congenital, 12, Autosomal Recessive
First reported 2025
Key publication · disorder A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.Blood · 2025
Manually curated
Association Review

In brief

The association between COPZ1 (Coat Protein Complex I Subunit Zeta 1) and Neutropenia, Severe Congenital, 12, Autosomal Recessive is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis.

Sources 1
Clinical variants 0
Symptoms 76
Compounds 0
Trials 0
Publications 0
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
COPZ1

The gene

1 source summary

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

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04
Neutropenia, Severe Congenital, 12, Autosomal Recessive

The disorder

3 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

47 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

3 references

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

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