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  2. Recurrent episodic apnoea
  3. RAPSN
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Recurrent episodic apnoea

Gene: RAPSN

Green List (high evidence)
RAPSN (receptor associated protein of the synapse)
EnsemblGeneIds (GRCh38): ENSG00000165917
EnsemblGeneIds (GRCh37): ENSG00000165917
OMIM: 601592, Gene2Phenotype
RAPSN is in 8 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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
Created: 1 Feb 2023, 2:43 p.m.
Last Modified: 1 Feb 2023, 2:43 p.m.
Panel version: 0.91

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 3 Jan 2023, 2:50 p.m.
Last Modified: 3 Jan 2023, 2:50 p.m.
Panel version: 0.65

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
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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
  • congenital myasthenic syndrome 11, MONDO:0014588
OMIM
601592
Clinvar variants
Variants in RAPSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rapsn has been classified as Green List (High Evidence).

3 Jan 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RAPSN were set to

3 Jan 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

3 Jan 2023, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: RAPSN was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: RAPSN was added gene: RAPSN was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: RAPSN was set to