G6PD

glucose-6-phosphate dehydrogenase
OMIM: 305900, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green G6PD in COVID-19 research


Level 2: Viral research
Version 1.141

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • Infections
  • haemolytic anaemia
  • Congenital defects of phagocyte number or function
  • Susceptibility to viral infection
  • chronic granulomatous disease-like susceptibility to infection
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD)
Green G6PD in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD)
  • haemolytic anaemia
  • chronic granulomatous disease-like susceptibility to infection
  • Infections
  • Congenital defects of phagocyte number or function
Green G6PD in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.116

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to G6PD deficiency, 300908
  • Enzyme Disorder
Green G6PD in Rare anaemia


Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Hemolytic anemia due to G6PD deficiency, 300908
  • 300908 Hemolytic anemia due to G6PD deficiency
  • 300908 Hemolytic anemia, G6PD deficient (favism)
  • Enzyme Disorder
Green G6PD in Severe Paediatric Disorders


Version 1.182

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hemolytic anemia, G6PD deficient (favism), 300908