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Red cell disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Only single family for the mono-allelic condition.
Created: 25 Jan 2024, 12:38 a.m. | Last Modified: 25 Jan 2024, 12:38 a.m.
Panel Version: 1.23
Polycythemia is a feature of the dominant condition, and haemolysis is a feature of the recessive condition.
Created: 14 Sep 2021, 12:56 a.m. | Last Modified: 14 Sep 2021, 12:56 a.m.
Panel Version: 0.118

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900; Pyruvate kinase deficiency, MIM# 266200

Created: 14 Sep 2021, 12:56 a.m.
Last Modified: 14 Sep 2021, 12:56 a.m.
Panel version: 1.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900
  • Pyruvate kinase deficiency, MIM# 266200
OMIM
609712
Clinvar variants
Variants in PKLR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PKLR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Sep 2021, 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).

14 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PKLR were changed from 266200 PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; PYRUVATE KINASE DEFICIENCY; 266200 Pyruvate kinase deficiency; Pyruvate kinase deficiency, 266200; Pyruvate kinase deficiency to Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900; Pyruvate kinase deficiency, MIM# 266200

14 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PKLR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Enzyme Disorder; PYRUVATE KINASE DEFICIENCY; 266200 Pyruvate kinase deficiency; Pyruvate kinase deficiency, 266200; 266200 PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency for gene: PKLR

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PKLR was added gene: PKLR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKLR were set to 8664896; 14014643; 7706479 Phenotypes for gene: PKLR were set to Enzyme Disorder; 266200 Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency