BPGM

bisphosphoglycerate mutase
OMIM: 613896, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green BPGM in Hereditary Erythrocytosis


Level 2: Haematology
Version 3.1
Latest signed off version: v3.0 (6 May 2026)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Erythrocytosis, familial, 8, OMIM:222800