Thoracic aortic aneurysm or dissection (GMS)
Gene: EMILIN1
EMILIN1 (elastin microfibril interfacer 1)
EnsemblGeneIds (GRCh38): ENSG00000138080
EnsemblGeneIds (GRCh37): ENSG00000138080
OMIM: 130660, Gene2Phenotype
EMILIN1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000138080
EnsemblGeneIds (GRCh37): ENSG00000138080
OMIM: 130660, Gene2Phenotype
EMILIN1 is in 4 panels
4 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
James Eden (Manchester)
Very few reported variants in the literature.Created: 2 Oct 2019, 3:20 p.m. | Last Modified: 2 Oct 2019, 3:20 p.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
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.
Details
- Sources
-
- Expert Review Red
- London South GLH
- London South GLH
- OMIM
- 130660
- Clinvar variants
- Variants in EMILIN1
- Penetrance
- None
- Panels with this gene
History Filter Activity
18 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: EMILIN1 was added gene: EMILIN1 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: EMILIN1 was set to