Ehlers Danlos syndrome with a likely monogenic cause
Gene: MYH11EnsemblGeneIds (GRCh38): ENSG00000133392
EnsemblGeneIds (GRCh37): ENSG00000133392
OMIM: 160745, Gene2Phenotype
MYH11 is in 13 panels
4 reviews
Helen Brittain (Genomics England Curator)
There is a clear gene-disease association but in view of the relatively discrete vascular phenotype, this gene would be best placed on the FTAAD panel rather than as a differential diagnosis for those with connective tissue disease. Those with a vascular phenotype in addition would be offered the FTAAD panel in addition. D/W Neeti Ghali, EDS Specialist Clinic who is in agreement.Created: 25 Jul 2017, 1:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Associated with FTAA. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.Created: 7 Jul 2017, 6:29 p.m.
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Removed 'Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders' as this comes from the name of the sequencing panel from EGL Genetics. Gene on panel could be due to associated to non-syndromicThoracic Aortic Aneurysm & Dissection (TAAD), need to check with clinical team team if this gene should remain on this panel based on update to eligibility statement.Created: 4 May 2017, 10:07 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Aortic aneurysm, familial thoracic 4, 132900
- OMIM
- 160745
- Clinvar variants
- Variants in MYH11
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Paediatric disorders - additional genes
- Unexplained kidney failure in young people
- DDG2P
- Thoracic aortic aneurysm or dissection
- Gastrointestinal neuromuscular disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Cerebral vascular malformations
- Pneumothorax - familial
- CAKUT
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for MYH11 were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders; Aortic aneurysm, familial thoracic 4, 132900
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for MYH11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH11 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list
Created
Ellen McDonagh (Genomics England Curator)MYH11 was created by ellenmcdonagh