Epileptic encephalopathy
Gene: PLCB1EnsemblGeneIds (GRCh38): ENSG00000182621
EnsemblGeneIds (GRCh37): ENSG00000182621
OMIM: 607120, Gene2Phenotype
PLCB1 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PLCB1 were set to Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PLCB1 were set to Kurian et al (2010) Brain 133: 2964_2970
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)PLCB1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal
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
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