This Panel is marked as Internal
Dystonia - childhood onset
Gene: GLRB
GLRB (glycine receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000109738
EnsemblGeneIds (GRCh37): ENSG00000109738
OMIM: 138492, Gene2Phenotype
GLRB is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000109738
EnsemblGeneIds (GRCh37): ENSG00000109738
OMIM: 138492, Gene2Phenotype
GLRB is in 8 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hyperekplexia 2, 614619
- OMIM
- 138492
- Clinvar variants
- Variants in GLRB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- DDG2P
- Brain channelopathy
- Early onset or syndromic epilepsy
- Paroxysmal central nervous system disorders
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GLRB was added gene: GLRB was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRB were set to 23238346; 11929858; 21391991 Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2