Paroxysmal central nervous system disorders
Gene: GLRA1EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 13 panels
5 reviews
Robyn Labrum (UCLH NHS Trust)
Hyperekplexiais an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks. We felt that this startle response fitted the brief of a paroxysmal disorder.Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Penny Clouston (Oxford)
Happy with green if including Hyperekplexia on this panel.Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.
Panel Version: 0.95
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Kept rating of GLRA1 as Green following Green updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 23 Sep 2019, 4:32 p.m. | Last Modified: 24 Sep 2019, 11:28 a.m.
Panel Version: 0.124
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Hyperekplexia, include?Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, 149400
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Hyperekplexia 1, 149400
- OMIM
- 138491
- Clinvar variants
- Variants in GLRA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Sudden death in young people
- 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
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, 149400 to Hyperekplexia 1, 149400
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: glra1 has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to GLRA1.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to GLRA1.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to GLRA1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes 149400 HYPEREKPLEXIA, HEREDITARY 1 for gene: GLRA1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GLRA1 was added gene: GLRA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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