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Prepair 1000+

Gene: PKLR

Green List (high evidence)

PKLR (pyruvate kinase L/R)
EnsemblGeneIds (GRCh38): ENSG00000143627
EnsemblGeneIds (GRCh37): ENSG00000143627
OMIM: 609712, Gene2Phenotype
PKLR is in 8 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- More than 100 families reported
- Onset in infancy, but may not be diagnosed until later in mild cases (OMIM)
- Severity ranges from fetal hydrops and symptomatic anaemia requiring lifelong transfusions to fully compensated haemolysis
Created: 7 Jan 2025, 2:44 a.m. | Last Modified: 7 Jan 2025, 2:44 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate Kinase deficiency (MIM# 266200)

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
  • Mackenzie's Mission
Phenotypes
  • Pyruvate kinase deficiency, MIM#266200
OMIM
609712
Clinvar variants
Variants in PKLR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pklr has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PKLR were changed from Pyruvate kinase deficiency, 266200 (3) to Pyruvate kinase deficiency, MIM#266200

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PKLR were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PKLR was added gene: PKLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, 266200 (3)