Epileptic encephalopathy
Gene: GABBR2
Publications
Publications
Publications
Publications
Comment on list classification: Confirmed with Richard Scott (Genomics England Clinical Team) that this gene should be promoted to green.Created: 11 Dec 2017, 9:56 a.m.
Comment on list classification: This is a Possible DD gene for Epileptic encephalopathy. No relevant diseases in OMIM. PMID: 29100083 - 1 patient with a de novo missense variant in this gene in the CENet Cohort is reported. He presented with severe global developmental delay and seizures, with profound intellectual deficiency. PMID: 28061363 - 2 individuals reported with de novo variants in this gene in an analysis by EuroEPINOMICS and Epi4K/EPGP of a large cohort of trios with epileptic encephalopathies, infantile spasms or Lennox Gastaut syndrome. Knock out mice experience spontaneous seizures and severe memory impairment. PMID: 26740508 - de novo missense variant in this gene and a homozygous variant in EIF4G1 were identified in this gene in a female patient with Rett syndrome including severe ID (without seizures). DDD project identified a de novo missense variants in 2 males and a female which were validated (PMID:28135719). PMID: 28856709 - the same de novo variant was identified in four unrelated patients with a Rett-like phenotype.Created: 8 Dec 2017, 5:15 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 4:02 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for GABBR2 were set to EPILEPTIC ENCEPHALOPATHY; Rett syndrome
Publications for GABBR2 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11; 29100083; 28061363; 28135719; 28135719; 28856709
Mode of inheritance for GABBR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Amber List (Moderate Evidence).
The Gel status was updated for this whole panel
GABBR2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
GABBR2 was added to Epileptic encephalopathypanel. Sources: Expert Review
GABBR2 was created by Reviewer_03