PKLR

pyruvate kinase L/R
OMIM: 609712, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PKLR in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.324

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pyruvate Kinase deficiency, MIM# 266200

Green PKLR in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyruvate kinase deficiency, MIM# 266200
  • Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900

Green PKLR in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate kinase deficiency, 266200 (3)

Green PKLR in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pyruvate kinase deficiency

Green PKLR in Red cell disorders


Level 2: Haematological disorders
Version 1.29

review 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

Green PKLR in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Pyruvate kinase deficiency 266200

Green PKLR in Prepair 1000+


Level 2: Screening
Version 1.1586

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate kinase deficiency, MIM#266200

Green PKLR in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Pyruvate kinase deficiency, MIM#266200
Tags
  • treatable
  • metabolic