Ehlers Danlos syndrome with a likely monogenic cause

Gene: ACTA2

Comment on phenotypes: Previous phenotypes:
Thoracic aortic aneurysm and dissection;Aortic aneurysm, familial thoracic 6;611788;Moyamoya disease 5;614042;Thoracic aneurysms congenital mydriasis;moya moya syndrome

Created: 18 Mar 2021, 2:25 p.m. | Last Modified: 18 Mar 2021, 2:25 p.m.

Panel Version: 2.53

There is a clear gene-disease association but in view of the relatively discrete vascular phenotype, this gene would be best placed on the FTAAD panel rather than as a differential diagnosis for those with connective tissue disease. Those with a vascular phenotype in addition would be offered the FTAAD panel in addition. D/W Neeti Ghali, EDS Specialist Clinic who is in agreement.

Created: 25 Jul 2017, 1:04 p.m.

Comment on list classification: Changed from Green to Amber based due to the relatively discrete vascular phenotype

Created: 25 Jul 2017, 1 p.m.

Comment on list classification: changed from red to green due to external review

Created: 10 Jul 2017, 3:13 p.m.

Comment on publications: Added publications as suggested by external expert reviewers

Created: 10 Jul 2017, 3:08 p.m.

Green List (high evidence)

Green List (high evidence)

Thoracic aneursyms, congenital mydriasis, moya moya syndrome. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.

Created: 7 Jul 2017, 6:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 17994018
• 19409525
• 21248741
• 20734336