1. Panels
  2. Fetal hydrops
  3. G6PD
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal hydrops

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

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Numerous G6PD variants have been associated with Hemolytic anemia, G6PD deficient (favism)(OMIM:300908) and {Resistance to malaria due to G6PD deficiency} (OMIM:611162). Nonimmune hydrops fetalis has been associated with G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia (PMID: 23719252), to date, only one report has made the connection between G6PD variants and fetal hydrops (PMID: 33082562).
Created: 9 Jul 2024, 2:33 p.m. | Last Modified: 9 Jul 2024, 2:33 p.m.
Panel Version: 1.81

Publications

Created: 9 Jul 2024, 2:33 p.m.
Last Modified: 9 Jul 2024, 2:33 p.m.
Panel version: 1.81

Irina Adamena (Children's Clinical University Hospital)

Green List (high evidence)

Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: Literature
Created: 11 Apr 2024, 4:20 p.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
Nonimmune hydrops fetalis

Publications

Created: 11 Apr 2024, 4:20 p.m.

Panel version: 1.64

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
  • Nonimmune hydrops fetalis
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jul 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: G6PD were set to 33082562

9 Jul 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: G6PD were set to PMID: 33082562

9 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: g6pd has been classified as Amber List (Moderate Evidence).

11 Apr 2024, Gel status: 0

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

Irina Adamena (Children's Clinical University Hospital)

gene: G6PD was added gene: G6PD was added to Fetal hydrops. Sources: Literature 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) Publications for gene: G6PD were set to PMID: 33082562 Phenotypes for gene: G6PD were set to Nonimmune hydrops fetalis Review for gene: G6PD was set to GREEN