Genomics England
GMS Panels
Panels
Genes and Entities

FXR1

FMR1 autosomal homolog 1
OMIM: 600819
PanelMode of inheritanceDetails
1 panel
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital proximal, with minicore lesions, OMIM:618823, Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822