GMPR

guanosine monophosphate reductase
OMIM: 139265, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red GMPR in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • progressive external ophthalmoplegia