Early onset or syndromic epilepsy
Gene: PLCB1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR EIEE12. Kurian et al 2010 - hom 0.5Mb DEL - incl promotor and ex 1-3, unaff parent het. Poduri et al, 2012 - hom 486kb del - incl promotor and ex 1-3. On HGMDpro - similar del reported by Olson et al, 2014, Ngoh et al 2014 and Lal et al 2015. The patient in the Ngoh et al paper was a compound het with a splicing variant.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 613722
Publications
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.
Source Wessex and West Midlands GLH was added to PLCB1.
Source NHS GMS was added to PLCB1.
Ellen McDonagh: Comment when marking as ready:
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PLCB1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to PLCB1. Panel: Genetic Epilepsy Syndromes
PLCB1 was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green,Expert
PLCB1 was created by Sarah Leigh