Thoracic aortic aneurysm or dissection
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
7 reviews
Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)
Well characterised aortopathy gene; present on Wessex aortopathy and TAAD panels.Created: 8 May 2019, 12:32 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Whittington (South West GLH)
132900 FTAAD; non-syndromic; well characterised geneCreated: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. 69 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with TAAD (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aortic aneurysm, familial thoracic 4 (132900)
Publications
Variants in this GENE are reported as part of current diagnostic practice
David Parry (University of Edinburgh)
Nick Camm (NHS)
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
On the Inherited Cardiac Condition Genes panel reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 12.Created: 19 Feb 2016, 10:49 a.m.
Publications
- 16444274
- doi:10.1007/s12265-016-9673-5
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Aortic aneurysm, familial thoracic 4, 132900
- Aortic aneurysm, familial thoracic 4 (132900)
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Pneumothorax - familial
- Paediatric disorders - additional genes
- CAKUT
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- 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
- DDG2P
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: MYH11 were set to 27081537
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to MYH11. Mode of inheritance for gene MYH11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to MYH11.
Added New Source, Set Phenotypes, Set publications, Status Update
Ellen McDonagh (Genomics England Curator)Source North West GLH was added to MYH11. Added phenotypes Aortic aneurysm, familial thoracic 4 (132900) for gene: MYH11 Publications for gene MYH11 were changed from to 27081537 Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYH11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH11 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYH11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH11 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYH11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH11 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYH11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH11 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)MYH11 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list