This Panel is marked as Retired
Recurrent episodic apnoea
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
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been set to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on classification of gene: This gene should be rated GREEN as this gene has been associated with apnoea from multiple cases (>3 unrelated cases each) for both autosomal dominant (AD) and autosomal recessive (AR) inheritance.
GLRA1 gene is associated with hyperekplexia 1 in both OMIM and G2P and it is caused by both autosomal dominant and autosomal recessive variants. Both AD and AR disorders were curated with "definitive" rating in G2P. Apnoea was reported as one of the clinical manifestations of hyperekplexia 1 in OMIM.
PMID:28122427 reviewed previous cases of both AD and AR hyperekplexia 1 and ~20% of all patients included in this review were presented with apnoea spells.Created: 3 Jan 2023, 11:13 a.m. | Last Modified: 3 Jan 2023, 11:13 a.m.
Panel Version: 0.49
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, OMIM:149400
Publications
Eleanor Williams (Genomics England Curator)
Gene added on recommendation of Dr Emma Matthews.Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hyperekplexia 1, OMIM:149400
- OMIM
- 138491
- Clinvar variants
- Variants in GLRA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- 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
3 Jan 2023, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, OMIM:149400
3 Jan 2023, Gel status: 3
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: GLRA1 were set to
3 Jan 2023, Gel status: 3
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
3 Jan 2023, Gel status: 3
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: glra1 has been classified as Green List (High Evidence).
21 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: GLRA1 was added gene: GLRA1 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: GLRA1 was set to