Neuromuscular arthrogryposis
Gene: RYR1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600
Variants in this GENE are reported as part of current diagnostic practice
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test groupCreated: 16 May 2019, 9:33 p.m.
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: 28 Apr 2019, 6:36 p.m.
Source NHS GMS was added to RYR1.
Source London South GLH was added to RYR1. Mode of inheritance for gene RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600; Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320 for gene: RYR1
Source Expert Review Green was added to RYR1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RYR1 was added gene: RYR1 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 29169929; 23553484