Thoracic aortic aneurysm or dissection

Gene: MYLK

Green List (high evidence)

MYLK (myosin light chain kinase)
EnsemblGeneIds (GRCh38): ENSG00000065534
EnsemblGeneIds (GRCh37): ENSG00000065534
OMIM: 600922, Gene2Phenotype
MYLK is in 7 panels

5 reviews

Rebecca Whittington (South West GLH)

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

James Eden (Manchester)

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

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

David Parry (University of Edinburgh)

Green List (high evidence)

Nick Camm (NHS)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aortic aneurysm, familial thoracic 7, 613780
  • Aortic aneurysm, familial thoracic 7 (613780)
OMIM
600922
Clinvar variants
Variants in MYLK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MYLK. Mode of inheritance for gene MYLK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to MYLK.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to MYLK. Added phenotypes Aortic aneurysm, familial thoracic 7 (613780) for gene: MYLK Publications for gene MYLK were changed from to 21055718 Rating Changed from Green List (high evidence) to Green List (high evidence)

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYLK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

3 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYLK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

3 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYLK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

3 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list