Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: PLCB1

Green List (high evidence)

PLCB1 (phospholipase C beta 1)
EnsemblGeneIds (GRCh38): ENSG00000182621
EnsemblGeneIds (GRCh37): ENSG00000182621
OMIM: 607120, Gene2Phenotype
PLCB1 is in 4 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Mostly intragenic CNVs reported. Developmental delay, seizures and hypotonia are significant features of the associated condition.

PMID: 24684524: 1 infant reported with developmental delay, seizures and hypotonia. Compound heterozygosity for a intragenic deletion and splice site variant.

PMID: 20833646: Homozygous intragenic deletion identified in a child presenting with developmental regression, seizures and hypotonia.

PMID: 22690784: Homozygous intragenic deletion. Proband presented with developmental delay, seizures and hypotonia.

6 pathogenic point mutations reported in ClinVar.

PMID: 26818157: Homozygous deletion of exons 7–9 identified in a child developmental regression, seizures and hypotonia.

Green in Genetic epilepsy and ID panels (PanelApp Uk)
Created: 8 Jul 2020, 1:50 a.m. | Last Modified: 8 Jul 2020, 1:50 a.m.
Panel Version: 0.2737

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 12 (MIM#613722)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Epileptic encephalopathy, early infantile, 12 (MIM#613722)
Tags
SV/CNV
OMIM
607120
Clinvar variants
Variants in PLCB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plcb1 has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLCB1 were changed from to Epileptic encephalopathy, early infantile, 12 (MIM#613722)

8 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLCB1 were set to

8 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: PLCB1.

8 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLCB1 was added gene: PLCB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLCB1 was set to Unknown