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Fetal anomalies

Gene: PLCB4

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 4 Aug 2023, 1:51 a.m.
Last Modified: 4 Aug 2023, 1:51 a.m.
Panel version: 1.135

Belinda Chong (Victorian Clinical Genetics Services)

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: 1 Feb 2022, 1:59 a.m. | Last Modified: 1 Feb 2022, 1:59 a.m.
Panel Version: 0.3031

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Auriculocondylar syndrome 2, MIM# 614669

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Feb 2022, 1:59 a.m.
Last Modified: 1 Feb 2022, 1:59 a.m.
Panel version: 0.3031

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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

History Filter Activity

4 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458

2 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plcb4 has been classified as Green List (High Evidence).

2 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLCB4 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 2, MIM# 614669

2 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLCB4 were set to

2 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLCB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plcb4 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLCB4 was added gene: PLCB4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME