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Cytopenias and congenital anaemias

Gene: PKLR

Green List (high evidence)

PKLR (pyruvate kinase L/R)
EnsemblGeneIds (GRCh38): ENSG00000143627
EnsemblGeneIds (GRCh37): ENSG00000143627
OMIM: 609712, Gene2Phenotype
PKLR is in 6 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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • PYRUVATE KINASE DEFICIENCY
  • Enzyme Disorder
  • Pyruvate kinase deficiency, 266200
OMIM
609712
Clinvar variants
Variants in PKLR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PKLR were set to 8579052;8616073;8664896;15982340;15953013;1549130;18420493;1896471

3 Mar 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PKLR were set to PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate kinase deficiency, 266200

3 Mar 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PKLR were set to PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate kinase deficiency,266200

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PKLR was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

PKLR was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN