Cerebral vascular malformations
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Amber
- Phenotypes
-
- moyamoya-like angiopath
- Aortic aneurysm, familial thoracic 4, OMIM:132900
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- DDG2P
- Thoracic aortic aneurysm or dissection
- Unexplained young onset end-stage renal disease - additional genes
- Gastrointestinal neuromuscular disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Paediatric pseudo-obstruction syndrome
- Fetal anomalies
- Cerebral vascular malformations
- Pneumothorax - familial
- Paediatric disorders - additional genes
- CAKUT
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to MYH11.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MYH11.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: myh11 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: myh11 has been removed from the panel.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: myh11 has been classified as Green List (High Evidence).
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
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: myh11 has been classified as Red List (Low Evidence).
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