ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Gene: SMAD2

Red List (low evidence)

SMAD2 (SMAD family member 2)
EnsemblGeneIds (GRCh38): ENSG00000175387
EnsemblGeneIds (GRCh37): ENSG00000175387
OMIM: 601366, Gene2Phenotype
SMAD2 is in 8 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 1:06 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
OMIM
601366
Clinvar variants
Variants in SMAD2
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMAD2 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SMAD2 was created by ellenmcdonagh