Genomics England
GMS Panels
Panels
Genes and Entities

PKLR

pyruvate kinase L/R
OMIM: 609712
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate kinase deficiency, OMIM:266200
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
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