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Clefting disorders
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)

Cleft palate is a feature of this craniofacial disorder.
Created: 29 Jan 2021, 3:56 a.m. | Last Modified: 29 Jan 2021, 3:56 a.m.

Panel Version: 0.20

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 29 Jan 2021, 3:56 a.m.
Last Modified: 29 Jan 2021, 3:56 a.m.
Panel version: 0.239

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

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

OMIM

Clinvar variants

Variants in PLCB4

Penetrance

None

Publications

Mode of Pathogenicity

Other

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; Cleft palate to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458; Cleft palate

29 Jan 2021, 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).

29 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLCB4 were changed from Cleft palate to Auriculocondylar syndrome 2, MIM# 614669; Cleft palate

29 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLCB4 were set to

29 Jan 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: PLCB4 was changed from to Other

29 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLCB4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Jan 2021, 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).

16 Sep 2020, Gel status: 1

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 Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: PLCB4 was set to Unknown Phenotypes for gene: PLCB4 were set to Cleft palate