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  2. Congenital anaemias
  3. G6PD
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Congenital anaemias

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, may be caused by monoallelic mutations in females
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to G6PD deficiencyFavism, 134700{Resistance to malaria due to G6PD deficiency}, 611162
  • Glucose-6-Phosphate Dehydrogenase Deficiency
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene G6PD was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene G6PD was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Congenital anaemiaspanel. Source: UKGTN

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene G6PD was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Congenital anaemiaspanel. Source: Emory Genetics Laboratory

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene G6PD was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

G6PD was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

G6PD was added to Congenital anaemiaspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

G6PD was added to Congenital anaemiaspanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

G6PD was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen