| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Spontaneous coronary artery dissection v0.51 | MYLK | Zornitza Stark Marked gene: MYLK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.51 | MYLK | Zornitza Stark Gene: mylk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.51 | MYLK | Zornitza Stark reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7 MIM#613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.38 | MYLK | Ain Roesley Publications for gene: MYLK were set to 30071989; 27586135; 21055718; 25907466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.37 | MYLK | Ain Roesley Classified gene: MYLK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.37 | MYLK | Ain Roesley Gene: mylk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.36 | MYLK | Ain Roesley edited their review of gene: MYLK: Changed rating: AMBER; Changed publications: 33125268; Changed phenotypes: Aortic aneurysm, familial thoracic 7 MIM#613780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.36 | MYLK |
Ain Roesley changed review comment from: Association between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466). "Definitive" by Clingen Aortopathy Working Group. Sources: Literature; to: 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: Literature |
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| Spontaneous coronary artery dissection v0.24 | MYLK | Ain Roesley Classified gene: MYLK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.24 | MYLK | Ain Roesley Gene: mylk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.23 | MYLK |
Ain Roesley 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 Added comment: Association between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466). "Definitive" by Clingen Aortopathy Working Group. Sources: Literature |
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