ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Gene: COL1A2

Red List (low evidence)

COL1A2 (collagen type I alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000164692
EnsemblGeneIds (GRCh37): ENSG00000164692
OMIM: 120160, Gene2Phenotype
COL1A2 is in 10 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.

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

Ellen McDonagh (Genomics England Curator)

COL1A2 was created by ellenmcdonagh