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Newborns main panel

Gene: G6PD

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

1 review

Mafalda Gomes (Genomics England Curator)

I don't know

MOI has ben updated to XLD as requested by Katrina. This is because haematologists felt both sexes should be reported.
Created: 14 Aug 2023, 1:17 p.m. | Last Modified: 14 Aug 2023, 1:17 p.m.
Panel Version: 0.225
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 27941691
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
From David:
Katrina and Mafalda
This paper suggests that the intermediate enzyme activitiy of most G6PD carrier females does not put them at high risk (reading the text rather than looking at the figure) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314154/

In the case of drug-associated risk of hemolysis, there is surprisingly little data to inform thresholds for safety or to challenge the assumption that G6PD deficiency greater than 30% is safe. This paucity of data is particularly relevant to females. Very few studies have looked at drug safety in females with intermediate G6PD activity. For primaquine, the perception of safety for females with intermediate activity greater than 30% of normal is reinforced by years of clinical practice, using the FST in settings with little pharmacovigilance or follow-up, creating a gender inequity in safety data. Recent studies seeking to address this knowledge gap at minimum suggest that the use of qualitative tests in women may not be adequate for case management with primaquine. They also indicate the absolute need to generate more safety data for women.

Also interesting… https://pubmed.ncbi.nlm.nih.gov/33628497/

It seems to me that XLR is the least ambiguous. Report males but not females.

Regards,
David
Sources: Expert list
Created: 27 Mar 2023, 9:56 a.m.

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

Phenotypes
G6PD deficient hemolytic anemia

Created: 27 Mar 2023, 9:56 a.m.

Panel version: 0.225

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 Amber
Phenotypes
  • G6PD deficient hemolytic anemia
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to G6PD. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

2 Oct 2023, Gel status: 3

Removed Source

Mafalda Gomes (Genomics England Curator)

Source Expert list was removed from G6PD.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes G6PD deficient hemolytic anemia for gene: G6PD

14 Aug 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: G6PD was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to G6PD. Mode of inheritance for gene G6PD was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal Added phenotypes G6PD deficient hemolytic anemia for gene: G6PD Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to G6PD. Added phenotypes G6PD deficient hemolytic anemia for gene: G6PD Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

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

9 May 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes G6PD deficient hemolytic anemia for gene: G6PD

27 Mar 2023, Gel status: 0

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: g6pd has been removed from the panel.

27 Mar 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

gene: G6PD was added gene: G6PD was added to Newborns main panel. Sources: 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 G6PD deficient hemolytic anemia Review for gene: G6PD was set to AMBER