Genopathy
Gene-Disorder Association · Article
Gene
ATP2B1
ATPase Plasma Membrane Ca2+ Transporting 1
Disorder
Pierre Robin Syndrome
First reported 1955
Key publication · disorder [Syndrome of micrognathia, cleft palate and glossoptosis (Pierre Robin syndrome); clinical and anatomopathological study of two cases].La Pediatria · 1955
Association Review

In brief

The association between ATP2B1 (ATPase Plasma Membrane Ca2+ Transporting 1) and Pierre Robin Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 23
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.

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
ATP2B1

The gene

1 source summary

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

Request access
04
Pierre Robin Syndrome

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

22 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

2 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access