Ehlers Danlos syndromesGene: MYH11
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, 1:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Associated with FTAA. 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.
Comment on phenotypes: Removed 'Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders' as this comes from the name of the sequencing panel from EGL Genetics. Gene on panel could be due to associated to non-syndromicThoracic Aortic Aneurysm & Dissection (TAAD), need to check with clinical team team if this gene should remain on this panel based on update to eligibility statement.
Created: 4 May 2017, 10:07 a.m.
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900
Phenotypes for MYH11 were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Aortic aneurysm, familial thoracic 4, 132900
Mode of inheritance for MYH11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH11 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list
MYH11 was created by ellenmcdonagh