1. Panels
  2. Spontaneous coronary artery dissection
  3. MYLK
STRs in panel
Prev Next
Regions in panel
Prev Next

Spontaneous coronary artery dissection

Gene: MYLK

Amber List (moderate evidence)
MYLK (myosin light chain kinase)
EnsemblGeneIds (GRCh38): ENSG00000065534
EnsemblGeneIds (GRCh37): ENSG00000065534
OMIM: 600922, Gene2Phenotype
MYLK is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Association with aortopathy is well established, association with SCA plausible.
Created: 13 Aug 2024, 2:02 a.m. | Last Modified: 13 Aug 2024, 2:02 a.m.
Panel Version: 0.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 7 MIM#613780

Created: 13 Aug 2024, 2:02 a.m.
Last Modified: 13 Aug 2024, 2:02 a.m.
Panel version: 0.51

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 33125268
1x SCAD individual with a stop gain

1x indiv from google search (https://medwinpublishers.com/CRIJ/unraveling-the-genetic-complexity-a-case-report-of-mylk-gene-mutation-in-a-patient-with-scad.pdf)
however, the specific variant was not provided - Authors said 'a VUS was identified'

Other papers from Google cite PMID: 33125268

Red/Amber rating, amber so as to not miss a diagnosis

Sources: Literature
Created: 27 Jun 2024, 11:54 p.m. | Last Modified: 7 Aug 2024, 5:33 a.m.
Panel Version: 0.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 7 MIM#613780

Publications

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

Created: 27 Jun 2024, 11:54 p.m.
Last Modified: 7 Aug 2024, 5:33 a.m.
Panel version: 0.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic aneurysm, familial thoracic 7 MIM#613780
OMIM
600922
Clinvar variants
Variants in MYLK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mylk has been classified as Amber List (Moderate Evidence).

7 Aug 2024, Gel status: 2

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: MYLK were set to 30071989; 27586135; 21055718; 25907466

7 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: mylk has been classified as Amber List (Moderate Evidence).

27 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: mylk has been classified as Green List (High Evidence).

27 Jun 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

gene: MYLK was added gene: MYLK was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYLK were set to 30071989; 27586135; 21055718; 25907466 Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7 MIM#613780 Review for gene: MYLK was set to GREEN gene: MYLK was marked as current diagnostic