Thoracic aortic aneurysm or dissection (GMS)
Gene: MYLK2
MYLK2 (myosin light chain kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000101306
EnsemblGeneIds (GRCh37): ENSG00000101306
OMIM: 606566, Gene2Phenotype
MYLK2 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000101306
EnsemblGeneIds (GRCh37): ENSG00000101306
OMIM: 606566, Gene2Phenotype
MYLK2 is in 4 panels
4 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
James Eden (Manchester)
Could not find literature associating MYLK2 with aortopathy, MYLK is associated with aortopathy (PubMed 21055718).Created: 2 Oct 2019, 3:06 p.m. | Last Modified: 2 Oct 2019, 3:06 p.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, hypertrophic, 1, digenic 192600
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Ellen McDonagh (Genomics England Curator)
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.
Details
- Sources
-
- Expert Review Red
- London South GLH
- London South GLH
- OMIM
- 606566
- Clinvar variants
- Variants in MYLK2
- Penetrance
- None
- Panels with this gene
History Filter Activity
18 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: MYLK2 was added gene: MYLK2 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: MYLK2 was set to