Thoracic aortic aneurysm or dissection (GMS)

Gene: MYLK

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.

Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.

Panel Version: 0.35

Green List (high evidence)

On Royal Brompton aortopathy (FTAAD) panel. Strong association with FTAAD. Several patients reported with likely pathogenic (loss of function) variants.

Created: 22 Jul 2019, 4:37 p.m. | Last Modified: 22 Jul 2019, 4:37 p.m.

Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 7 (613780)

Publications

• 27586135
• 21055718
• 25907466

Green List (high evidence)

613780 FTAAD; non-syndromic; well characterised gene

Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 43 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: strong association with TAAD (accessed 29/01/2019).

Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Aortic aneurysm, familial thoracic 7 (613780)

Publications

• 21055718

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

Green List (high evidence)

Green List (high evidence)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.

Created: 20 Feb 2019, 2:17 p.m.

On the Inherited Cardiac Condition Genes panel 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, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 5.

Created: 19 Feb 2016, 10:49 a.m.

Publications

• 21055718
• doi:10.​1007/​s12265-016-9673-5