Cerebral vascular malformations

Gene: MYH11

Amber List (moderate evidence)

MYH11 (myosin heavy chain 11)
EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 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 evidence
Created: 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 GMS
Created: 29 Nov 2019, 3:31 p.m. | Last Modified: 29 Nov 2019, 3:31 p.m.
Panel Version: 1.50

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

Red List (low evidence)

Sources: Literature
Created: 14 Apr 2019, 7:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
moyamoya-like angiopathy

Publications

Details

History Filter Activity

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to MYH11.

29 Nov 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYH11.

29 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myh11 has been classified as Amber List (Moderate Evidence).

29 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myh11 has been removed from the panel.

29 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myh11 has been classified as Green List (High Evidence).

29 Nov 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MYH11 were changed from moyamoya-like angiopathy to moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, 132900

29 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myh11 has been classified as Red List (Low Evidence).

14 Apr 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

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