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 Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Myopathy, congenital proximal, with minicore lesions, OMIM:618823
    • Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822
    Green FXR1 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FXR1-related congenital myopathy