Hereditary ataxia with onset in adulthood
Gene: GLRA1EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Phenotype on OMIM doesn't specificially mention ataxia or cerebellar abnormalities but described movement disorder could be confused. Looks like loss of function variants are only associtaed with the AR form (not halpoinsufficient)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, 149400
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
- Phenotypes
-
- Hyperekplexia 1, 149400
- Hyperekplexia, hereditary 1, 149400
- OMIM
- 138491
- Clinvar variants
- Variants in GLRA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Sudden death in young people
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Hyperekplexia 1, 149400 for gene: GLRA1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GLRA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to GLRA1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GLRA1 was added gene: GLRA1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 20301437 Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1