Cerebral vascular malformations
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
3 unrelated cases identified with variants in MHY11 and a CVM phenotype. Two of the variants have high FAF in gnomAD v4.1.No other cases have been reported with a CVM phenotype.
PMID: 32081817
29F with stenosis of cerebral arteries confirmed via MRI brain imaging.
c.3858+1G>A was identified on testing - absent in gnomAD v4.1
PMID: 29263223
2F with moya moya like cerebrovascular disease identified with R1535Q however the variant is common in gnomad 4.1 (FAF 0.7% - too high for AD condition)
PMID: 27367753
6 month girl with subarachnoid haemorrhage due to the result of multiple cerebral aneurysm ruptures.
c.5273G>A (p.Arg1758Gln) was identified during testing - variant is common in gnomAD v4.1 (FAF - 0.02%-too high for AD condition)Created: 19 Nov 2024, 4:33 a.m. | Last Modified: 19 Nov 2024, 4:33 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cerebrovascular disorder MONDO:0011057
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Aortic aneurysm, familial thoracic 4, 132900
- moyamoya-like angiopath
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Incidentalome
- Additional findings_Adult
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Incidentalome_PREGEN_DRAFT
- Gastrointestinal neuromuscular disease
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Cerebral vascular malformations
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: myh11 has been classified as Red List (Low Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: MYH11 were set to 16444274; 29263223
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: myh11 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYH11 was added gene: MYH11 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH11 were set to 16444274; 29263223 Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900; moyamoya-like angiopath