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| Aortopathy_Connective Tissue Disorders v1.5 | MYLK | Zornitza Stark Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, MIM#600922 to Aortic aneurysm, familial thoracic 7, MIM#613780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.4 | MYLK | Zornitza Stark reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.67 | MYLK | Zornitza Stark Marked gene: MYLK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.67 | MYLK | Zornitza Stark Gene: mylk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.67 | MYLK | Zornitza Stark Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM#600922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.66 | MYLK | Zornitza Stark Publications for gene: MYLK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.65 | MYLK | Zornitza Stark Mode of inheritance for gene: MYLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.26 | MYLK | Paul De Fazio Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.26 | MYLK |
Paul De Fazio edited their review of gene: MYLK: Added comment: "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).; Changed rating: GREEN |
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| Aortopathy_Connective Tissue Disorders v0.26 | MYLK |
Paul De Fazio changed review comment from: "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).; to: "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). |
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| Aortopathy_Connective Tissue Disorders v0.26 | MYLK | Paul De Fazio reviewed gene: MYLK: Rating: ; Mode of pathogenicity: None; Publications: 30071989, 27586135, 21055718, 25907466; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#600922; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.0 | MYLK |
Zornitza Stark 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 |
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