Aortopathy_Connective Tissue Disorders
Gene: MYLK

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)

Green List (high evidence)

Phenotypes
Aortic aneurysm, familial thoracic 7, MIM#613780

Created: 29 Dec 2020, 2:22 a.m.
Last Modified: 29 Dec 2020, 2:22 a.m.
Panel version: 1.4

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

"Definitive" by Clingen Aortopathy Working Group.

Green on PanelApp UK.

Association between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466).
Created: 25 Jun 2020, 4:05 a.m. | Last Modified: 25 Jun 2020, 4:05 a.m.

Panel Version: 0.26

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

Phenotypes
Aortic aneurysm, familial thoracic 7, MIM#600922

Publications

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

Created: 25 Jun 2020, 4:04 a.m.
Last Modified: 25 Jun 2020, 4:04 a.m.
Panel version: 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Aortic aneurysm, familial thoracic 7, MIM#613780

OMIM

600922

Clinvar variants

Variants in MYLK

Penetrance

None

Publications

Panels with this gene