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  3. ATP13A3
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Pulmonary Arterial Hypertension

Gene: ATP13A3

Green List (high evidence)
ATP13A3 (ATPase 13A3)
EnsemblGeneIds (GRCh38): ENSG00000133657
EnsemblGeneIds (GRCh37): ENSG00000133657
OMIM: 610232, Gene2Phenotype
ATP13A3 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 25 May 2022, 11:07 p.m.
Last Modified: 25 May 2022, 11:07 p.m.
Panel version: 1.19

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

Created: 27 Jan 2020, 11:25 p.m.
Last Modified: 27 Jan 2020, 11:25 p.m.
Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Primary pulmonary hypertension 5, MIM#265400
OMIM
610232
Clinvar variants
Variants in ATP13A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP13A3 were changed from Pulmonary arterial hypertension to Primary pulmonary hypertension 5, MIM#265400

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp13a3 has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP13A3 were changed from to Pulmonary arterial hypertension

27 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP13A3 were set to

27 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP13A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp13a3 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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