ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Gene: COL3A1

Green List (high evidence)

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 11 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.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

History Filter Activity

23 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL3A1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Source: ClinGen COL3A1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Source: Expert Review Green

23 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL3A1 was created by ellenmcdonagh

23 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL3A1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: Other