Arthrogryposis
Gene: RYR1Comment when marking as ready: Can present with arthrogryposis -especially with recessive forms which can be more severeCreated: 22 Dec 2016, 10:26 a.m.
more typically a myopathy presentation but there are several reports of RYR1 mutations in CMD like presentations so should probably be included.early scoliosis facial weakness +/- ophthalmoplegiaCreated: 19 Dec 2016, 11:47 a.m.
Phenotypes
congenital muscular dystrophies
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).
Phenotypes for RYR1 were set to ; {Malignant hyperthermia susceptibility 1}, 145600; congenital muscular dystrophies; Minicore myopathy with external ophthalmoplegia 255320
RYR1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory RYR1 was added to Arthrogryposispanel. Source:
RYR1 was added to Arthrogryposispanel. Source: UKGTN RYR1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen RYR1 was added to Arthrogryposispanel. Source: Expert
RYR1 was added to Arthrogryposispanel. Sources: Expert list
RYR1 was created by ellenmcdonagh