Thoracic aortic aneurysm or dissection
Gene: SMAD6
SMAD6 (SMAD family member 6)
EnsemblGeneIds (GRCh38): ENSG00000137834
EnsemblGeneIds (GRCh37): ENSG00000137834
OMIM: 602931, Gene2Phenotype
SMAD6 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000137834
EnsemblGeneIds (GRCh37): ENSG00000137834
OMIM: 602931, Gene2Phenotype
SMAD6 is in 9 panels
1 review
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
-
- London South GLH
- OMIM
- 602931
- Clinvar variants
- Variants in SMAD6
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- DDG2P
- Syndromic and non syndromic craniosynostosis involving midline sutures
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
20 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SMAD6 was added gene: SMAD6 was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH Mode of inheritance for gene: SMAD6 was set to