Ehlers Danlos syndromes

Gene: MYLK

Amber List (moderate evidence)

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

7 reviews

Ivone Leong (Genomics England Curator)

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

Eleanor Williams (Genomics England Curator)

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.

Duncan Baker (Sheffield Genetics)

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

Helen Brittain (Genomics England Curator)

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

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

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.

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Aortic aneurysm, familial thoracic 7, OMIM:613780
OMIM
600922
Clinvar variants
Variants in MYLK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm to Aortic aneurysm, familial thoracic 7, OMIM:613780

15 May 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm to Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm

13 Mar 2019, Gel status: 2

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to MYLK.

25 Jul 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYLK were set to Aortic aneurysm, familial thoracic 7, 613780; FTAA;Familial thoracic aortic aneurysm

10 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

10 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

10 Jul 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MYLK were set to 21055718; 26854089; 26188975

10 Jul 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MYLK were set to 21055718;26854089; 26188975;

10 Jul 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYLK were set to Aortic aneurysm, familial thoracic 7, 613780;FTAA

10 Jul 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MYLK were set to 21055718

4 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYLK were set to Aortic aneurysm, familial thoracic 7, 613780

4 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYLK were set to Aortic aneurysm, familial thoracic 7,613780

28 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYLK were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Connective Tissue Disorders; Aortic aneurysm, familial thoracic 7,613780

28 Apr 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

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

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYLK was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list