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Non-Fanconi anaemia

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

3 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: OMIM records a XLR inheritance for 'Hemolytic anemia due to G6PD deficiency, 300908' and XLD inhertiance for 'Favism, 134700'. Mode of inheritance of G6PD recorded as XLD in related panels.
Created: 4 May 2017, 9:54 a.m.
Comment on list classification: Kept rating as Green: Green Expert review plus >3 cases of G6PD variants in anemia cases.
Created: 4 May 2017, 9:28 a.m.
Created: 4 May 2017, 9:28 a.m.

Panel version: 0.262

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hemolytic anemia due to G6PD deficiency

Created: 26 Jan 2016, 1:27 p.m.

Panel version: 0.228

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
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to G6PD deficiency, 300908
  • congenital nonspherocytic hemolytic anemia
  • nonspherocytic hemolytic anemia due to G6PD deficiency
  • Favism, 134700
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for G6PD was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

4 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; congenital nonspherocytic hemolytic anemia; nonspherocytic hemolytic anemia due to G6PD deficiency; Favism, 134700

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for G6PD were set to 10666231

4 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; congenital nonspherocytic hemolytic anemia; nonspherocytic hemolytic anemia due to G6PD deficiency

4 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908

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 Non-Fanconi anaemiapanel. 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 Non-Fanconi anaemiapanel. 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 Non-Fanconi anaemiapanel. 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 Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Non-Fanconi anaemiapanel. 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Non-Fanconi anaemiapanel. 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Non-Fanconi anaemiapanel. 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PD was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services