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  3. MYH11
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Aortopathy_Connective Tissue Disorders

Gene: MYH11

Green List (high evidence)
MYH11 (myosin heavy chain 11)
EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

"Definitive" by Clingen Aortopathy Working Group.

Green in PanelApp UK.

Associated with aortic aneurysm with and without patent ductus arteriosus in at least 5 families (PMID 16444274;17666408;27081537).
Created: 25 Jun 2020, 4:20 a.m. | Last Modified: 25 Jun 2020, 4:20 a.m.
Panel Version: 0.26

Phenotypes
Aortic aneurysm, familial thoracic 4, MIM#160745

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jun 2020, 4:20 a.m.
Last Modified: 25 Jun 2020, 4:20 a.m.
Panel version: 0.26

History Filter Activity

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYH11 were changed from to Aortic aneurysm, familial thoracic 4, MIM#160745

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYH11 were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH11 was added gene: MYH11 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH11 was set to Unknown