Congenital myopathy
Gene: RYR3
Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81Created: 5 Dec 2019, 4:35 p.m. | Last Modified: 5 Dec 2019, 4:38 p.m.
Panel Version: 1.225
Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.Created: 4 Dec 2019, 1:41 p.m. | Last Modified: 4 Dec 2019, 1:41 p.m.
Panel Version: 1.217
gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive missense variants were identified in a patient with childhood-onset nemaline myopathy. Nilipour Y, Nafissi S, Tjust AE, et al. : Ryanodine receptor type 3 ( RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018;25(6):841–7.
Sources: Expert Review, NHS GMSCreated: 4 Dec 2019, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
childhood-onset nemaline myopathy
Publications
Phenotypes for gene: RYR3 were changed from Nemaline myopathy, MONDO:0018958 to Congenital myopathy 20, OMIM:620310; Nemaline myopathy, MONDO:0018958
Tag gene-checked was removed from gene: RYR3.
Phenotypes for gene: RYR3 were changed from childhood-onset nemaline myopathy to Nemaline myopathy, MONDO:0018958
Tag gene-checked tag was added to gene: RYR3.
Gene: ryr3 has been classified as Green List (High Evidence).
Gene: ryr3 has been classified as Amber List (Moderate Evidence).
gene: RYR3 was added gene: RYR3 was added to Congenital myopathy. Sources: Expert Review,NHS GMS Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR3 were set to 29498452 Phenotypes for gene: RYR3 were set to childhood-onset nemaline myopathy Review for gene: RYR3 was set to AMBER