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DDG2P

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PLCB4-related auriculocondylar syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 22560091, 23315542, 28328130, 35170830). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00070.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AURICULOCONDYLAR SYNDROME, OMIM:602483 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
AURICULOCONDYLAR SYNDROME, OMIM:602483; PLCB4-related auriculocondylar syndrome; MONDO:0013845; OMIM:614669.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Eleanor Williams (Genomics England Curator)

Left the rating of this gene on the DDG2P panel as is, as this panel reflects the DD gene-disease pairs and attributes downloaded from Gene2Phenotype up to and including November 5th 2019. However, the gene has been recommended for green rating on both the Fetal Anomalies and Clefting panels (part of the Paediatric disorders super panel).
Created: 25 May 2022, 11:27 a.m. | Last Modified: 25 May 2022, 11:27 a.m.
Panel Version: 2.72
Created: 25 May 2022, 11:27 a.m.
Last Modified: 25 May 2022, 11:27 a.m.
Panel version: 2.72

Kate Downes (Uni of Cambridge / CUH)

Green List (high evidence)

Auriculocondylar syndrome
Missense variants in catalytic domain of PLCB4 are associated with a dominant negative effect.
Loss of function variants associated with recessive disease.
PMID: 22560091, PMID: 23315542, PMID: 28328130, PMID: 23913798
Created: 21 Oct 2021, 1:17 p.m. | Last Modified: 21 Oct 2021, 1:17 p.m.
Panel Version: 2.50

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Auriculocondylar syndrome 2 (OMIM: 614669)

Publications

Mode of pathogenicity
Other

Created: 21 Oct 2021, 1:17 p.m.
Last Modified: 21 Oct 2021, 1:17 p.m.
Panel version: 2.50

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • AURICULOCONDYLAR SYNDROME 602483
OMIM
600810
Clinvar variants
Variants in PLCB4
Penetrance
None
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: PLCB4 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PLCB4. Mode of pathogenicity for gene PLCB4 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PLCB4 was added gene: PLCB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype 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 602483 Mode of pathogenicity for gene: PLCB4 was set to Other - please provide details in the comments