Newborns additional phenotypes panel 1
Gene: GLRA1EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 13 panels
1 review
Mafalda Gomes (Genomics England Curator)
Gene REMOVED because of specialist opinion (Dan Lumsden).Created: 7 Jul 2023, 9:53 a.m. | Last Modified: 7 Jul 2023, 9:53 a.m.
Panel Version: 0.31
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
PMID: 34379238 - review 77 variants both dominant and recessiveCreated: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Hyperekplexia 1 autosomal dominant
- OMIM
- 138491
- Clinvar variants
- Variants in GLRA1
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Paroxysmal central nervous system disorders
- Sudden death in young people
- Intellectual disability
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- DDG2P
- Brain channelopathy
- Hereditary ataxia with onset in adulthood
History Filter Activity
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Hyperekplexia 1 autosomal dominant for gene: GLRA1
Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to GLRA1. Mode of pathogenicity for gene GLRA1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Hyperekplexia 1 autosomal dominant for gene: GLRA1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1 autosomal dominant
Created, Added New Source, Set mode of inheritance
Mafalda Gomes (Genomics England Curator)gene: GLRA1 was added gene: GLRA1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: GLRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown