Cytopenias and congenital anaemias
Gene: PKLR

PKLR (pyruvate kinase L/R)
EnsemblGeneIds (GRCh38): ENSG00000143627
EnsemblGeneIds (GRCh37): ENSG00000143627
OMIM: 609712, Gene2Phenotype
PKLR is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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.

Created: 3 Mar 2017, 3:52 p.m.

Panel version: 0.345

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enzyme Disorder; Pyruvate kinase deficiency

Publications

8579052

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN

Phenotypes

Pyruvate kinase deficiency, OMIM:266200

OMIM

609712

Clinvar variants

Variants in PKLR

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PKLR were changed from PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate kinase deficiency, 266200 to Pyruvate kinase deficiency, OMIM:266200

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

3 Mar 2017, Gel status: 4