Cytopenias and congenital anaemiasGene: G6PD
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Enzyme Disorder; Severe hemolytic anemia due to G6PD deficiency
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908;Enzyme Disorder
Publications for G6PD were set to 1999409
G6PD was created by LouiseD
G6PD was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN