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This Panel is marked as Internal

Newborns main panel
Gene: PKLR

PKLR (pyruvate kinase L/R)
EnsemblGeneIds (GRCh38): ENSG00000143627
EnsemblGeneIds (GRCh37): ENSG00000143627
OMIM: 609712, Gene2Phenotype
PKLR is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 32043619 - 254 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

rare cases with 3 pathogenic variants - large UK study https://pubmed.ncbi.nlm.nih.gov/32043619/
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Pyruvate kinase deficiency

OMIM

Clinvar variants

Variants in PKLR

Penetrance

None

Panels with this gene

History Filter Activity

27 Sep 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only was removed from gene: PKLR.

26 Sep 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: PKLR.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pyruvate kinase deficiency for gene: PKLR

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PKLR. Added phenotypes Pyruvate kinase deficiency for gene: PKLR Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PKLR. Added phenotypes Pyruvate kinase deficiency for gene: PKLR Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PKLR. Added phenotypes Pyruvate kinase deficiency for gene: PKLR Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pyruvate kinase deficiency for gene: PKLR

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PKLR was added gene: PKLR was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal