Thoracic aortic aneurysm and dissection

Gene: ATP7A

Red List (low evidence)

ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 21 panels

5 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35

James Eden (Manchester)

Red List (low evidence)

Definitely associated with Menkes syndrome, no significant association with aortopathy.
Created: 2 Oct 2019, 3:49 p.m. | Last Modified: 2 Oct 2019, 3:49 p.m.
Panel Version: 0.32

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Menkes disease 309400; Occipital horn syndrome 304150; Spinal muscular atrophy, distal, X-linked 3 300489

Rebecca Whittington (South West GLH)

Red List (low evidence)

309400 XLR Menkes disease; 304150 Occipital horn syndrome - some overlap with connective tissue disorders. Disorders of copper metabolism with neurological impariment.
Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Ellen McDonagh (Genomics England Curator)

Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.
Created: 19 Feb 2016, 10:53 a.m.

Matina Prapa (Genomics England Curator)

Menkes disease- despite high frequency of ascending aneurysm formation in the "blotchy" mouse (PMID: 3385878), predominant feature in humans is vascular tortuosity rather than true aneurysm formation with only a few case reports in the literature (brachial artery, PMID: 16939759; iliac artery, PMID: 19522551). In a different study of 95 affected individuals, 4 (4.2%) had major congenital heart defects with no evidence of aortic dilatation on echocardiography (PMID: 22134099). Therefore, there is inadequate information at present linking ATP7A to human thoracic aortic disease.

Occipital horn syndrome- Linked to aneurysm of abdominal vessels, hepatic artery, and splenic artery (PMID: 15981243) but again no evidence of thoracic aortic disease.
Created: 11 Feb 2016, 1:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

#309400- Menkes disease; #304150- Occipital horn syndrome; #300489- Spinal muscular atrophy, distal, X-linked 3


History Filter Activity

18 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ATP7A was added gene: ATP7A was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females