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  3. G6PD
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: G6PD

Green List (high evidence)
G6PD (glucose-6-phosphate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 6 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hemolytic anemia, G6PD deficient (favism), MIM#300908
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
None
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: G6PD was added gene: G6PD was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), MIM#300908