Brain channelopathy
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
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Added to the gene list as hypereklepsia is a channelopathy disorderCreated: 21 Feb 2017, 5:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
149400 HYPEREKPLEXIA, HEREDITARY 1
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hyperekplexia, hereditary 1, 149400
- OMIM
- 138491
- Clinvar variants
- Variants in GLRA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
- Sudden death in young people
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- DDG2P
- Brain channelopathy
- Hereditary ataxia with onset in adulthood
History Filter Activity
9 Jan 2019, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Jan 2017, Gel status: 0
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
17 Jan 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)GLRA1 was created by arianna
17 Jan 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)GLRA1 was added to Brain channelopathypanel. Sources: Expert Review