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

Epileptic encephalopathy

Gene: PLCB1

Green List (high evidence)

PLCB1 (phospholipase C beta 1)
EnsemblGeneIds (GRCh38): ENSG00000182621
EnsemblGeneIds (GRCh37): ENSG00000182621
OMIM: 607120, Gene2Phenotype
PLCB1 is in 5 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

Publications

  • Kurian et al (2010) Brain 133: 2964_2970

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

Publications

  • Kurian et al (2010) Brain 133: 2964_2970

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

Publications

  • Kurian et al (2010) Brain 133: 2964_2970

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

Publications

  • Kurian et al (2010) Brain 133: 2964 2970

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Probable DD gene for this disorder, and all 4 reviewers agree this should be green. Loss-of-function variants cause the disorder, and mode of inheritance confirmed in G2P and OMIM.
Created: 21 Jan 2016, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Early Infantile Epileptic Encephalopathy, Autosomal Recessive
  • Epileptic encephalopathy, early infantile, 12
OMIM
607120
Clinvar variants
Variants in PLCB1
Penetrance
Complete
Publications
  • Kurian et al (2010) Brain 133: 2964_2970
Panels with this gene

History Filter Activity

21 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PLCB1 were set to Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

21 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PLCB1 were set to Kurian et al (2010) Brain 133: 2964_2970

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PLCB1 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 3

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PLCB1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PLCB1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PLCB1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLCB1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert