Hereditary Erythrocytosis
Gene: PKLRComment 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
Mode of inheritance
Unknown
Phenotypes
Familial erythrocytosis
Publications
Publications for gene: PKLR were set to 22274579
Mode of inheritance for gene: PKLR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKLR were changed from Familial erythrocytosis to Adenosine triphosphate, elevated, of erythrocytes, OMIM:102900
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
Mode of inheritance for PKLR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
PKLR was added to Hereditary Erythrocytosispanel. Sources: Literature
PKLR was created by oniblock