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  2. Pulmonary Arterial Hypertension
  3. G6PD
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Pulmonary Arterial Hypertension

Gene: G6PD

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Multiple reports of variants in G6PD reported in individuals with PAH, mechanism unclear.
Created: 27 Jul 2020, 1:14 a.m. | Last Modified: 27 Jul 2020, 1:14 a.m.
Panel Version: 0.49
Created: 27 Jul 2020, 1:14 a.m.
Last Modified: 27 Jul 2020, 1:14 a.m.
Panel version: 0.49

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One idiopathic PAH case had a missense that resulted in severe G6PD deficiency and another case had a missense associated with a 20% decrease in G6PD function. Inhibition of G6PD activity with a potent G6PD inhibitor, decreased haematopoietic stem cells in hypoxic mice, causing pulmonary hypertension.
Sources: Literature
Created: 28 Jan 2020, 12:40 a.m. | Last Modified: 28 Jan 2020, 12:40 a.m.
Panel Version: 0.32

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
Pulmonary arterial hypertension

Publications

Created: 28 Jan 2020, 12:40 a.m.
Last Modified: 28 Jan 2020, 12:40 a.m.
Panel version: 0.32

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
  • Literature
Phenotypes
  • Pulmonary arterial hypertension
OMIM
305900
Clinvar variants
Variants in G6PD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

28 Jan 2020, Gel status: 1

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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

28 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: G6PD was added gene: G6PD was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: G6PD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: G6PD were set to 31913656; 30161219 Phenotypes for gene: G6PD were set to Pulmonary arterial hypertension Review for gene: G6PD was set to AMBER