G6PD

glucose-6-phosphate dehydrogenase
OMIM: 305900, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
No list G6PD in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Nonimmune hydrops fetalis
Green G6PD in COVID-19 research Level 2: Viral research Version 1.142	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 5.3 Latest signed off version: v5.0 (1 May 2024)	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 1.118	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 Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Hemolytic anemia due to G6PD deficiency, 300908 Enzyme Disorder
Green G6PD in Rare anaemia Version 3.8 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 1.184	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