Congenital myaesthenic syndrome
Gene: RAPSNComment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326;acute respiratory crises;late and early onsetCreated: 22 Mar 2021, 2:14 p.m. | Last Modified: 22 Mar 2021, 2:14 p.m.
Panel Version: 2.29
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 30 Apr 2019, 9:30 a.m.
see PanelAppCreated: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset
Comment when marking as ready: 1 Green review plus >3 cases of RAPSN mutations causing myasthenic syndrome, plus DD-G2P confirmed gene.Created: 31 Jan 2017, 1:50 p.m.
Comment on phenotypes: Respiratory insufficiency due to muscle weakness is a reported phenotype of myaesthenia.
Created: 31 Jan 2017, 1:50 p.m.
Plenty of cases in varied populations of RAPSN mutations causing congenital myasthenic syndrome (OMIM:616326)- recorded in OMIM and literature.Created: 31 Jan 2017, 1:48 p.m.
Confirmed DD-G2P gene for CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY.Created: 31 Jan 2017, 1:46 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 31 Jan 2017, 1:44 p.m.
Covered by Oxford Congenital Myasthenia ServiceCreated: 25 Jan 2017, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome; acute respiratory crises; late and early onset
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RAPSN were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
Source NHS GMS was added to RAPSN.
Source Wessex and West Midlands GLH was added to RAPSN. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for RAPSN were set to Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset
Mode of inheritance for RAPSN was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for RAPSN were set to Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
Publications for RAPSN were set to 11791205; 16945936; 15145336; 14504330
RAPSN was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen
RAPSN was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory
RAPSN was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services
RAPSN was added to Congenital myaestheniapanel. Sources: UKGTN