Ehlers Danlos syndrome with a likely monogenic cause

Gene: MYLK

Comment on phenotypes: Previous phenotypes:
Aortic aneurysm, familial thoracic 7, 613780;FTAA;Familial thoracic aortic aneurysm;aortic dissection with or without aortic aneurysm

Created: 18 Mar 2021, 2:28 p.m. | Last Modified: 18 Mar 2021, 2:28 p.m.

Panel Version: 2.55

I don't know

This gene is associated with Familial thoracic aortic aneurysm. Although patients with variants in this gene may present with EDS features it was decided following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it to keep this gene amber. If more evidence of an overlap in phenotypes becomes available the rating can be reviewed.

Created: 14 Aug 2019, 2:19 p.m. | Last Modified: 14 Aug 2019, 2:19 p.m.

Panel Version: 1.62

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MYLK; Suggested initial gene rating: green

Created: 3 Apr 2019, 3:41 p.m.

Green List (high evidence)

Lab experience indicates that MYLK pathogenic mutations can present with EDS features.

Created: 24 Jan 2019, 11:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
aortic dissection with or without aortic aneurysm

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

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, 12:59 p.m.

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

Phenotypes
Aortic aneurysm, familial thoracic 7 613780

Green List (high evidence)

Green List (high evidence)

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

Created: 25 Jul 2017, 12:59 p.m.

Comment on list classification: changed status from Red to green due to external review and further literature search

Created: 10 Jul 2017, 3:26 p.m.

Comment on publications: Added publications to support association to FTAA

Created: 10 Jul 2017, 3:24 p.m.

Comment on publications: 2 unrelated families reported PMID:21055718

Created: 10 Jul 2017, 3:19 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 due to associated with non-syndromic Thoracic 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, 10:09 a.m.