ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Gene: EFEMP2

Amber List (moderate evidence)

EFEMP2 (EGF containing fibulin extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000172638
EnsemblGeneIds (GRCh37): ENSG00000172638
OMIM: 604633, Gene2Phenotype
EFEMP2 is in 7 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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
OMIM
604633
Clinvar variants
Variants in EFEMP2
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EFEMP2 was created by ellenmcdonagh

22 Jun 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EFEMP2 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Amber