Ehlers Danlos syndrome with a likely monogenic cause
Gene: ACTA2Comment 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 syndromeCreated: 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 phenotypeCreated: 25 Jul 2017, 1 p.m.
Comment on list classification: changed from red to green due to external reviewCreated: 10 Jul 2017, 3:13 p.m.
Comment on publications: Added publications as suggested by external expert reviewersCreated: 10 Jul 2017, 3:08 p.m.
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
Phenotypes for gene: ACTA2 were changed from Thoracic aortic aneurysm and dissection; Aortic aneurysm, familial thoracic 6; 611788; Moyamoya disease 5; 614042; Thoracic aneurysms congenital mydriasis; moya moya syndrome to Aortic aneurysm, familial thoracic 6, OMIM:611788
Mode of inheritance for gene: ACTA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ACTA2 were set to Thoracic aortic aneurysm and dissection;Aortic aneurysm, familial thoracic 6;611788;Moyamoya disease 5;614042;Thoracic aneurysms congenital mydriasis; moya moya syndrome
Publications for ACTA2 were set to 17994018; 19409525; 21248741; 20734336
ACTA2 was created by ellenmcdonagh
ACTA2 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list