Stroke
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Presentation is predominantly with thoracic aortic aneurysms.Created: 17 Mar 2021, 3:34 a.m. | Last Modified: 17 Mar 2021, 3:34 a.m.
Panel Version: 0.89
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 4, MIM# 132900
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Aortic aneurysm, familial thoracic 4, MIM# 132900
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- None
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh11 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4 to Aortic aneurysm, familial thoracic 4, MIM# 132900
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh11 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MYH11 was added gene: MYH11 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4