ClinGen_Familial thoracic aortic aneurysm and aortic dissection

Gene: COL18A1

Red List (low evidence)

COL18A1 (collagen type XVIII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000182871
EnsemblGeneIds (GRCh37): ENSG00000182871
OMIM: 120328, Gene2Phenotype
COL18A1 is in 9 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
120328
Clinvar variants
Variants in COL18A1
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL18A1 was created by ellenmcdonagh

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL18A1 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red