Genopathy
Gene-Disorder Association · Article
Gene
SEC61A1
SEC61 Translocon Subunit Alpha 1
Disorder
Neutropenia, Severe Congenital, 11, Autosomal Dominant
First reported 2008
Supporting publications 1
Key publication · disorder Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.Journal of medical genetics · 2008
Manually curated
Association Review

In brief

The association between SEC61A1 (SEC61 Translocon Subunit Alpha 1) and Neutropenia, Severe Congenital, 11, Autosomal Dominant is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 3
Symptoms 39
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
SEC61A1

The gene

1 source summary

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

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04
Neutropenia, Severe Congenital, 11, Autosomal Dominant

The disorder

6 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

23 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

3 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

7 references

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

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