ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Gene: MYLK

Green List (high evidence)

MYLK (myosin light chain kinase)
EnsemblGeneIds (GRCh38): ENSG00000065534
EnsemblGeneIds (GRCh37): ENSG00000065534
OMIM: 600922, Gene2Phenotype
MYLK is in 7 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 1:06 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
OMIM
600922
Clinvar variants
Variants in MYLK
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Green

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYLK was created by ellenmcdonagh