PKLR - Gene browser

PKLR

pyruvate kinase L/R

HCNC Approved Symbol: PKLR (HGNC:9020)
Genomic Coordinates: 1:155,289,293 - 155,308,654 (1q22)
Synonyms
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

20Patients

In total, 20 patients were diagnosed with a variant in the PKLR gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

020
Patient count

Chronic hemolytic anemia: 9 (45.0%)
Patient Count: 9 (45.0%)
% of total patients presenting each phenotype is shown in parentheses.
9 (45.0%)
Reticulocytosis: 7 (35.0%)
Patient Count: 7 (35.0%)
% of total patients presenting each phenotype is shown in parentheses.
7 (35.0%)
Hepatosplenomegaly: 6 (30.0%)
Patient Count: 6 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (30.0%)
Normochromic anemia: 6 (30.0%)
Patient Count: 6 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (30.0%)
Normocytic anemia: 6 (30.0%)
Patient Count: 6 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (30.0%)