MYF5

myogenic factor 5
OMIM: 159990, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MYF5 in Congenital fibrosis of the extraocular muscles


Level 2: Ophthalmology
Version 2.3
Latest signed off version: v2.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
  • Expert list
Phenotypes
  • Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
Amber MYF5 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    Phenotypes
    • Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
    Green MYF5 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • External Ophthalmoplegia Rib and Vertebral Anomalies