BPGM

bisphosphoglycerate mutase
OMIM: 613896
PanelMode of inheritanceDetails
1 panel
R-numbers: R405
Signed-off version 2.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Erythrocytosis, familial, 8, OMIM:222800