Transplant Co-Morbidity Superpanel
Gene: G6PD
G6PD (glucose-6-phosphate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 12 panels
1 review
Claire Fryer-Smith (University of Melbourne)
Glucose-6-phosphate dehydrogenase (G6PD) mediates the production of NADPH and Ribose-5-phosphate and is one of the first genes found to be associated with variable drug response. Individuals with G6PD deficiency may have increased risks of adverse reactions to many drugs including primaquine, chloroquine, dapsone, rasburicase, avandaryl tablets (glimepiride + rosiglitazone maleate) and glucovance tablets (metformin + glibenclamide).
https://www.pharmgkb.org/vip/PA166169539Created: 25 Aug 2023, 5:51 a.m. | Last Modified: 25 Aug 2023, 5:51 a.m.
Panel Version: 0.4
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hemolytic anemia, G6PD deficient (favism) MIM# 300908
Details
- Mode of Inheritance
- 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
- Phenotypes
-
- Haemolytic anaemia
- OMIM
- 305900
- Clinvar variants
- Variants in G6PD
- Penetrance
- None
- Panels with this gene
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: G6PD was added gene: G6PD was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: G6PD were set to Haemolytic anaemia