Aortopathy_Connective Tissue Disorders

Gene: MYLK

Green List (high 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)

Green List (high evidence)

Phenotypes
Aortic aneurysm, familial thoracic 7, MIM#613780

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

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

History Filter Activity

29 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, MIM#600922 to Aortic aneurysm, familial thoracic 7, MIM#613780

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM#600922

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYLK were set to

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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