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  3. G6PD
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Pharmacogenomics_Paediatric

Gene: G6PD

Green List (high evidence)
G6PD (glucose-6-phosphate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 31 Jul 2020, 10:09 a.m.

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
Haemolytic anemia, G6PD deficient (favism), MIM# 300908

Created: 31 Jul 2020, 10:09 a.m.

Panel version: 0.3

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
  • Expert list
Phenotypes
  • Haemolytic anemia, G6PD deficient (favism), MIM# 300908
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
None
Panels with this gene

History Filter Activity

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: g6pd has been classified as Green List (High Evidence).

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: g6pd has been classified as Green List (High Evidence).

31 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: G6PD was added gene: G6PD was added to Pharmacogenomics_Paediatric. Sources: Expert list 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 anemia, G6PD deficient (favism), MIM# 300908 Review for gene: G6PD was set to GREEN