Cytopenias and congenital anaemias
Gene: PKLRComment on list classification: Changed status from Red to Green due to evidence in the sources and review.Created: 3 Mar 2017, 3:53 p.m.
Comment on publications: Evidence for many unrelated cases where PKLR is known to result in hereditary hemolytic anemia (more than 3 unrelated families). Some specific cases include: PMID: 15953013 (21 unrelated families PMID: 15491302 (4 affecteds,1 large family); PMID:18420493 (3 affecteds, 2 families), PMID:1896471 (2 affecteds,1 family). PMID:8579052;8616073,8664896,15982340 (combined tabulated publications indicate 150 variants in the PKLR known to result in hereditary hemolytic anemia).Created: 3 Mar 2017, 3:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Pyruvate kinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PKLR were changed from PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate kinase deficiency, 266200 to Pyruvate kinase deficiency, OMIM:266200
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PKLR were set to 8579052;8616073;8664896;15982340;15953013;1549130;18420493;1896471
Phenotypes for PKLR were set to PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate kinase deficiency, 266200
Phenotypes for PKLR were set to PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate kinase deficiency,266200
PKLR was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
PKLR was created by LouiseD