Pulmonary Arterial Hypertension
Gene: G6PDComment 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
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: LiteratureCreated: 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
Gene: g6pd has been classified as Amber List (Moderate Evidence).
Gene: g6pd has been classified as Amber List (Moderate Evidence).
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)
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