This Panel is marked as Retired
Epileptic encephalopathy
Gene: GLRA1
GLRA1 (glycine receptor alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 13 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 138491
- Clinvar variants
- Variants in GLRA1
- Penetrance
- Complete
- Panels with this gene
-
- Paroxysmal central nervous system disorders
- Sudden death in young people
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- Paediatric or syndromic cardiomyopathy
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Neurodegenerative disorders, adult onset
- DDG2P
- Brain channelopathy
- Hereditary ataxia, adult onset
History Filter Activity
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GLRA1 was added to Epileptic encephalopathypanel. Source: Expert Review Red
13 Nov 2015, Gel status: 0
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GLRA1 was added to Epileptic encephalopathypanel. Sources: Expert