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Mendeliome

Gene: ATP13A3

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Sources: Expert list
Created: 27 Jul 2020, 12:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary pulmonary hypertension 5, MIM#265400

Publications

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

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: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP13A3 was added gene: ATP13A3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ATP13A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP13A3 were set to 31798832; 30679663; 29650961 Phenotypes for gene: ATP13A3 were set to Pulmonary arterial hypertension Review for gene: ATP13A3 was set to GREEN