ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: COL1A2

COL1A2 (collagen type I alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000164692
EnsemblGeneIds (GRCh37): ENSG00000164692
OMIM: 120160, Gene2Phenotype
COL1A2 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.

Created: 23 Jun 2017, 1:06 p.m.

Panel version: 0.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

ClinGen
Expert Review Red

Phenotypes

Familial thoracic aortic aneurysm and aortic dissection

OMIM

120160

Clinvar variants

Variants in COL1A2

Penetrance

Complete

Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A2 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red

22 Jun 2017, Gel status: 0

Created