Cerebral vascular malformations
Gene: MYH11
New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformationsCreated: 29 Nov 2019, 3:41 p.m. | Last Modified: 29 Nov 2019, 5:52 p.m.
Panel Version: 1.67
Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations.
This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidenceCreated: 29 Nov 2019, 3:33 p.m. | Last Modified: 29 Nov 2019, 5:50 p.m.
Panel Version: 1.67
Review from clinical expert (Vijeya Ganesan: GOSH / ICH): multi-system vascular disease, green rating.Created: 29 Nov 2019, 3:32 p.m. | Last Modified: 29 Nov 2019, 3:32 p.m.
Panel Version: 1.51
Comment on list classification: added gene back to panel due to recent update as part of the GMSCreated: 29 Nov 2019, 3:31 p.m. | Last Modified: 29 Nov 2019, 3:31 p.m.
Panel Version: 1.50
Phenotypes for gene: MYH11 were changed from moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, 132900 to moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, OMIM:132900
Source Yorkshire and North East GLH was added to MYH11.
Source NHS GMS was added to MYH11.
Gene: myh11 has been classified as Amber List (Moderate Evidence).
Gene: myh11 has been removed from the panel.
Gene: myh11 has been classified as Green List (High Evidence).
Phenotypes for gene: MYH11 were changed from moyamoya-like angiopathy to moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, 132900
Gene: myh11 has been classified as Red List (Low Evidence).
gene: MYH11 was added gene: MYH11 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH11 were set to 29263223; 16444274 Phenotypes for gene: MYH11 were set to moyamoya-like angiopathy Penetrance for gene: MYH11 were set to unknown Review for gene: MYH11 was set to RED