PKLR

pyruvate kinase L/R
OMIM: 609712, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red PKLR in Hereditary Erythrocytosis

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.44
Latest signed off version: v1.19 (30 Sep 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Familial erythrocytosis

No list PKLR in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.55

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Pyruvate Kinase deficiency

Green PKLR in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.106

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • PYRUVATE KINASE DEFICIENCY
  • Enzyme Disorder
  • Pyruvate kinase deficiency, 266200

Green PKLR in Rare anaemia


Version 1.41
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Enzyme Disorder
  • PYRUVATE KINASE DEFICIENCY
  • Pyruvate kinase deficiency
  • 266200 PYRUVATE KINASE DEFICIENCY
  • 266200 Pyruvate kinase deficiency
  • Pyruvate kinase deficiency, 266200

Green PKLR in Fetal anomalies


Version 1.905
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Pyruvate kinase deficiency 266200

Green PKLR in Severe Paediatric Disorders


Version 1.127

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Adenosine triphosphate, elevated, of erythrocytes, 102900
  • Pyruvate kinase deficiency, 266200