Pierre Robin Sequence
Gene: PLCB4

PLCB4 (phospholipase C beta 4)
EnsemblGeneIds (GRCh38): ENSG00000101333
EnsemblGeneIds (GRCh37): ENSG00000101333
OMIM: 600810, Gene2Phenotype
PLCB4 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.

Mostly missense variants associated with mono-allelic disease, dominant negative effect postulated. At least 3 reports of bi-allelic LoF variants.
Created: 2 Aug 2021, 11:02 a.m. | Last Modified: 2 Aug 2021, 11:02 a.m.

Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458

Publications

Created: 2 Aug 2021, 11:02 a.m.
Last Modified: 2 Aug 2021, 11:02 a.m.
Panel version: 0.47

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Auriculocondylar syndrome 2A, MIM# 614669
Auriculocondylar syndrome 2B, MIM# 620458

OMIM

600810

Clinvar variants

Variants in PLCB4

Penetrance

None

Publications

Panels with this gene