Genomics England
GMS Panels
Panels
Genes and Entities

G6PD

glucose-6-phosphate dehydrogenase
OMIM: 305900
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hemolytic anemia due to G6PD deficiency, 300908, 300908 Hemolytic anemia due to G6PD deficiency, 300908 Hemolytic anemia, G6PD deficient (favism), Enzyme Disorder