ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: COL4A5

COL4A5 (collagen type IV alpha 5 chain)
EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 6 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

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

ClinGen
Expert Review Red

Phenotypes

Familial thoracic aortic aneurysm and aortic dissection

OMIM

303630

Clinvar variants

Variants in COL4A5

Penetrance

Complete

Panels with this gene

History Filter Activity

10 May 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: COL4A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL4A5 was created by ellenmcdonagh

22 Jun 2017, Gel status: 1

Added New Source