GMPR

guanosine monophosphate reductase
OMIM: 139265, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red GMPR in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • progressive external ophthalmoplegia