Genopathy
Gene-Disorder Association · Article
Gene
PLCB4
Phospholipase C Beta 4
Disorder
Auriculocondylar Syndrome 2a
First reported 2012
Supporting publications 11
Key publication · gene–disorder A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.American journal of human genetics · 2012
Key publication · disorder Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.American journal of medical genetics. Part A · 2005
Manually curated
Association Review

In brief

The association between PLCB4 (Phospholipase C Beta 4) and Auriculocondylar Syndrome 2a 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 125
Symptoms 71
Compounds 0
Trials 0
Publications 11
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

4 sources

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

Request access
03
PLCB4

The gene

2 source summaries

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

Request access
04
Auriculocondylar Syndrome 2a

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

28 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

125 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

11 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access