PanelApp (test)
  1. Genes and Genomic Entities
  2. FXR1

FXR1

FMR1 autosomal homolog 1
OMIM: 600819, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green FXR1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital multi-minicore myopathy
  • myopathy, congenital proximal, with minicore lesions MONDO:0032937

Green FXR1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    Phenotypes
    • Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823
    • MONDO:0032937)