Genopathy
Gene-Disorder Association · Article
Gene
G6PC3
Glucose-6-Phosphatase Catalytic Subunit 3
Disorder
Severe Congenital Neutropenia 4
First reported 2010
Supporting publications 34
Key publication · gene–disorder Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.Blood · 2010
Key publication · disorder Statistical features of human exons and their flanking regions.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3) and Severe Congenital Neutropenia 4 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 402
Symptoms 0
Compounds 0
Trials 0
Publications 34
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
G6PC3

The gene

1 source summary

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

Request access
04
Severe Congenital Neutropenia 4

The disorder

2 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
ClinVar and variant evidence

Genetic basis

402 clinical variants

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

Request access
06
Literature

Reading

34 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access