Congenital myopathyGene: FXR1
congenital multi-minicore myopathy.
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 this gene for R81
Created: 5 Dec 2019, 4:38 p.m. | Last Modified: 5 Dec 2019, 4:38 p.m.
Panel Version: 1.226
New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Created: 2 Dec 2019, 2:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital multi-minicore myopathy
Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy to Congenital multi-minicore myopathy; ?Myopathy, congenital proximal, with minicore lesions #618823; ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822
Gene: fxr1 has been classified as Green List (High Evidence).
Gene: fxr1 has been classified as Amber List (Moderate Evidence).
gene: FXR1 was added gene: FXR1 was added to Congenital myopathy. Sources: Expert Review Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXR1 were set to 30770808 Phenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy Review for gene: FXR1 was set to AMBER