Spontaneous coronary artery dissection
Gene: MYLK
Association with aortopathy is well established, association with SCA plausible.Created: 13 Aug 2024, 2:02 a.m. | Last Modified: 13 Aug 2024, 2:02 a.m.
Panel Version: 0.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 7 MIM#613780
PMID: 33125268
1x SCAD individual with a stop gain
1x indiv from google search (https://medwinpublishers.com/CRIJ/unraveling-the-genetic-complexity-a-case-report-of-mylk-gene-mutation-in-a-patient-with-scad.pdf)
however, the specific variant was not provided - Authors said 'a VUS was identified'
Other papers from Google cite PMID: 33125268
Red/Amber rating, amber so as to not miss a diagnosis
Sources: LiteratureCreated: 27 Jun 2024, 11:54 p.m. | Last Modified: 7 Aug 2024, 5:33 a.m.
Panel Version: 0.36
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 7 MIM#613780
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: mylk has been classified as Amber List (Moderate Evidence).
Publications for gene: MYLK were set to 30071989; 27586135; 21055718; 25907466
Gene: mylk has been classified as Amber List (Moderate Evidence).
Gene: mylk has been classified as Green List (High Evidence).
gene: MYLK was added gene: MYLK was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYLK were set to 30071989; 27586135; 21055718; 25907466 Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7 MIM#613780 Review for gene: MYLK was set to GREEN gene: MYLK was marked as current diagnostic