Aortopathy_Connective Tissue Disorders
Gene: MYLK
Phenotypes
Aortic aneurysm, familial thoracic 7, MIM#613780
"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
Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, MIM#600922 to Aortic aneurysm, familial thoracic 7, MIM#613780
Gene: mylk has been classified as Green List (High Evidence).
Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM#600922
Publications for gene: MYLK were set to
Mode of inheritance for gene: MYLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: MYLK was added gene: MYLK was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYLK was set to Unknown