Genomics England
GMS Panels
Panels
Genes and Entities

FXR1

FMR1 autosomal homolog 1
OMIM: 600819
PanelMode of inheritanceDetails
2 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital proximal, with minicore lesions, OMIM:618823, Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FXR1-related congenital myopathy