PKLR

pyruvate kinase L/R
OMIM: 609712
PanelMode of inheritanceDetails
2 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate kinase deficiency 266200
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder, PYRUVATE KINASE DEFICIENCY, Pyruvate kinase deficiency, 266200 PYRUVATE KINASE DEFICIENCY, 266200 Pyruvate kinase deficiency, Pyruvate kinase deficiency, 266200