Genopathy
Gene-Disorder Association · Article
Gene
JAGN1
Jagunal Vesicle Mediated Transporter 1
Disorder
Neutropenia, Severe Congenital, 6, Autosomal Recessive
First reported 2014
Supporting publications 1
Key publication · gene–disorder JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.Nature genetics · 2014
Key publication · disorder [Application of subtractive hybridization in screening for colorectal cancer negatively related genes].Zhonghua yi xue za zhi · 1997
Manually curated
Association Review

In brief

The association between JAGN1 (Jagunal Vesicle Mediated Transporter 1) and Neutropenia, Severe Congenital, 6, Autosomal Recessive is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 126
Symptoms 12
Compounds 0
Trials 0
Publications 1
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
JAGN1

The gene

1 source summary

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

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04
Neutropenia, Severe Congenital, 6, Autosomal Recessive

The disorder

11 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

7 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

126 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

1 publication

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

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09
Provenance

References & sources

8 references

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

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