PanelApp (test)
  1. Genes and Genomic Entities
  2. FXR1:Ensemblv90

FXR1:Ensemblv90

FMR1 autosomal homolog 1
OMIM: 600819, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FXR1 in Mendeliome


Version 1.3802

1 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 1.112

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

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

    Green FXR1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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