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PKLR

Synonyms
PK1, PKL, PKRL, RPK
External resources
Summary
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
87
VUS
3,171
Likely benign
1,238
Benign
9

Patient phenotypes

Proportions of phenotypes among 99 patients carrying pathogenic or likely pathogenic variants on PKLR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.4%
Abnormality of the eye
32.3%
Abnormality of the musculoskeletal system
19.2%
Abnormality of head or neck
16.2%
Abnormality of the integument
14.1%
Abnormality of the immune system
13.1%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of the ear
10.1%
Neoplasm
9.1%
Abnormality of limbs
8.1%
Abnormality of the cardiovascular system
8.1%
Abnormality of the digestive system
8.1%
Abnormality of the endocrine system
7.1%
Abnormality of the genitourinary system
7.1%
Growth abnormality
6.1%
Constitutional symptom
3%
Abnormal cellular phenotype
2%
Abnormality of prenatal development or birth
2%
Abnormality of the respiratory system
2%
Abnormality of the breast
1%
Abnormality of the voice
1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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