Hereditary Erythrocytosis
Gene: PKLREnsemblGeneIds (GRCh38): ENSG00000143627
EnsemblGeneIds (GRCh37): ENSG00000143627
OMIM: 609712, Gene2Phenotype
PKLR is in 5 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'monoallelic' only. Limited evidence but historic reports linked heterozygous variants in the PKLR gene to elevation of red cell ATP levels, accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Patients were asymptomatic and no recent cases have been published therefore Red rating is appropriate (PMIDs: 9090535; 4160306; 14300761; 7426754).
Biallelic variants cause pyruvate kinase deficiency which results in nonspherocytic hemolytic anemia rather than erythrocytosis.Created: 24 Jan 2024, 6:14 p.m. | Last Modified: 24 Jan 2024, 6:14 p.m.
Panel Version: 2.5
Olivia Niblock (Genomics England Curator)
Mode of inheritance
Unknown
Phenotypes
Familial erythrocytosis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Adenosine triphosphate, elevated, of erythrocytes, OMIM:102900
- OMIM
- 609712
- Clinvar variants
- Variants in PKLR
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PKLR were set to 22274579
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: PKLR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PKLR were changed from Familial erythrocytosis to Adenosine triphosphate, elevated, of erythrocytes, OMIM:102900
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for PKLR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Olivia Niblock (Genomics England Curator)PKLR was added to Hereditary Erythrocytosispanel. Sources: Literature
Created
Olivia Niblock (Genomics England Curator)PKLR was created by oniblock