Recurrent episodic apnoea
Gene: RAPSN
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
Associated with Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (OMIM:616326), but not with this condition in Gen2Phen. At least 12 variants have been reported to associated with OMIM:616326, with rs104894299 occuring in numerous cases (PIMD: 14504330; 29189923). Characterization of an early and late phenotype, reveales that apnoea and episodic crises were associated with the early phenotype (PMID: 14504330).Created: 3 Jan 2023, 2:50 p.m. | Last Modified: 3 Jan 2023, 2:50 p.m.
Panel Version: 0.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326; congenital myasthenic syndrome 11, MONDO:0014588
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
Gene: rapsn has been classified as Green List (High Evidence).
Publications for gene: RAPSN were set to
Phenotypes for gene: RAPSN were changed from to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326; congenital myasthenic syndrome 11, MONDO:0014588
Mode of inheritance for gene: RAPSN was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: RAPSN was added gene: RAPSN was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: RAPSN was set to