Recurrent episodic apnoea
Gene: GLRA1
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
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
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
Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, OMIM:149400
Publications for gene: GLRA1 were set to
Mode of inheritance for gene: GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: glra1 has been classified as Green List (High Evidence).
gene: GLRA1 was added gene: GLRA1 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: GLRA1 was set to