Pulmonary Arterial Hypertension
Gene: ATP13A3
Already reviewed for adult onset PAH, biallelic variants cause childhood onset disease (3 families)Created: 12 May 2025, 11:49 p.m. | Last Modified: 12 May 2025, 11:49 p.m.
Panel Version: 1.39
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pulmonary hypertension, primary, 5 MIM#265400
Publications
DEFINITIVE by ClinGen.Created: 8 Aug 2023, 4:52 a.m. | Last Modified: 8 Aug 2023, 4:52 a.m.
Panel Version: 1.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary pulmonary hypertension 5, MIM#265400
Three heterozygous frameshift variants, three stop gained, two splice region variants in ATP13A3, which are predicted to lead to loss of ATPase catalytic activity identified in idiopathic/familial PAH cases. Also one case with putative recessive inheritance reported. ATP13A3 mRNA expression is confirmed in primary PASMCs and endothelial cells where its loss hindered proliferation and enhanced apoptosis of endothelial cells, which is known as the initiation event of PAH.Created: 27 Jan 2020, 11:25 p.m. | Last Modified: 27 Jan 2020, 11:25 p.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary arterial hypertension
Publications
Publications for gene: ATP13A3 were set to 31798832; 30679663; 29650961
Mode of inheritance for gene: ATP13A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A3 were changed from Pulmonary arterial hypertension to Primary pulmonary hypertension 5, MIM#265400
Gene: atp13a3 has been classified as Green List (High Evidence).
Phenotypes for gene: ATP13A3 were changed from to Pulmonary arterial hypertension
Publications for gene: ATP13A3 were set to
Mode of inheritance for gene: ATP13A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: atp13a3 has been classified as Green List (High Evidence).
gene: ATP13A3 was added gene: ATP13A3 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: ATP13A3 was set to Unknown