Genopathy
Gene-Disorder Association · Article
Gene
CERS1
Ceramide Synthase 1
Disorder
Right Atrial Isomerism
First reported 2010
Supporting publications 6
Key publication · gene–disorder Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).Human molecular genetics · 2010
Key publication · disorder Congenital absence of the spleen; syndrome with atrioventricularis and situs inversus; case reports and review of the literature.Pediatrics · 1952
Manually curated
Association Review

In brief

The association between CERS1 (Ceramide Synthase 1) and Right Atrial Isomerism is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 11
Symptoms 36
Compounds 0
Trials 0
Publications 6
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

1 source

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

Request access
03
CERS1

The gene

1 source summary

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

Request access
04
Right Atrial Isomerism

The disorder

16 database identifiers

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

Request access
05
Phenotype

Clinical features

20 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

11 clinical variants

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

Request access
07
Literature

Reading

6 publications

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

Request access
08
Provenance

References & sources

11 references

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

Request access