Epileptic encephalopathy
Gene: GABBR2EnsemblGeneIds (GRCh38): ENSG00000136928
EnsemblGeneIds (GRCh37): ENSG00000136928
OMIM: 607340, Gene2Phenotype
GABBR2 is in 3 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Publications
- EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Natalie Trump (NHS - Great Ormond Street Hospital)
Publications
- EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Manju Kurian (UCL-Institute of Child Health)
Publications
- EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Richard Scott (North Thames GMC/UCL)
Publications
- EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- EPILEPTIC ENCEPHALOPATHY
- Rett syndrome
- Tags
- OMIM
- 607340
- Clinvar variants
- Variants in GABBR2
- Penetrance
- Complete
- Publications
- 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 GABBR2 were set to EPILEPTIC ENCEPHALOPATHY; Rett syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GABBR2 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11; 29100083; 28061363; 28135719; 28135719; 28856709
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GABBR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)GABBR2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Richard Scott (North Thames GMC/UCL)GABBR2 was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)GABBR2 was created by Reviewer_03