Epileptic encephalopathy
Gene: PLCB1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for PLCB1 were set to Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12
Publications for PLCB1 were set to Kurian et al (2010) Brain 133: 2964_2970
The Gel status was updated for this whole panel
PLCB1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal
PLCB1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal
PLCB1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene PLCB1 was changed to BIALLELIC, autosomal or pseudoautosomal
PLCB1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
PLCB1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert