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  3. PLCB4
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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 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.10

Eleanor Williams (Genomics England Curator)

Comment on list classification: Leaving the rating of this gene as amber just now, but there are sufficient cases to promote to green following GMS review.
Created: 25 May 2022, 11:23 a.m. | Last Modified: 25 May 2022, 11:23 a.m.
Panel Version: 1.862
Green review from Kate Downes (Uni of Cambridge / CUH) for this gene on the DDG2P panel. She notes that "Missense variants in catalytic domain of PLCB4 are associated with a dominant negative effect. Loss of function variants associated with recessive disease."

Associated with Auriculocondylar syndrome 2 OMIM:614669 (AD, AR) and currently has a strong association with AURICULOCONDYLAR SYNDROME in Gene2Phenotype.
Created: 25 May 2022, 11:18 a.m. | Last Modified: 25 May 2022, 11:18 a.m.
Panel Version: 1.860

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Auriculocondylar syndrome 2, OMIM:614669; auriculocondylar syndrome 2, MONDO:0013845

Publications

Created: 25 May 2022, 11:18 a.m.
Last Modified: 25 May 2022, 11:18 a.m.
Panel version: 1.860

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AURICULOCONDYLAR SYNDROME
OMIM
600810
Clinvar variants
Variants in PLCB4
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_rating was removed from gene: PLCB4.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PLCB4. Source NHS GMS was added to PLCB4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 May 2022, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: plcb4 has been classified as Amber List (Moderate Evidence).

25 May 2022, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

25 May 2022, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: PLCB4.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PLCB4 was added gene: PLCB4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber 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