15-20% of congenital myasthenic syndrome is caused by RAPSN mutations
Created: 22 Dec 2016, 3:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Fetal akinesia deformation sequence 208150 ; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Green List (High Evidence).
Publications for RAPSN were set to 19261599; 20301347
RAPSN was added to Arthrogryposispanel. Source: UKGTN RAPSN was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services RAPSN was added to Arthrogryposispanel. Source: Emory Genetics Laboratory RAPSN was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
RAPSN was created by ellenmcdonagh
RAPSN was added to Arthrogryposispanel. Sources: Expert list