Aortopathy_Connective Tissue Disorders
Gene: COL3A1

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 17 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30071989; Classified as Definitive by Clingen for heritable thoracic aortic aneurysm and dissection

Classified as Definitive for Ehlers-Danlos syndrome, vascular type.
Clingen evidence summary (Feb 2019):
This is a well-known gene-disease relationship and there is a significant amount of case-level, segregation and experimental data in the literature, therefore the maximum points for genetic and experimental evidence has been reached. The mechanism for disease is mainly gain-of-function as most cases result from missense variants leading to the substitution of a crucial glycine in the repetitive Gly-X-Y sequence of the triple helix domain, resulting in only 1 in 8 normal mature collagen homotrimers. About 5% of cases are due to haploinsufficiency and are associated with milder phenotypes (PMID: 25758994).
Created: 25 Jun 2020, 3:08 a.m. | Last Modified: 25 Jun 2020, 3:08 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, vascular type; heritable thoracic aortic aneurysm and dissection

Publications

PMID: 30071989
25758994

Created: 25 Jun 2020, 3:08 a.m.
Last Modified: 25 Jun 2020, 3:08 a.m.
Panel version: 0.26

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ehlers-Danlos syndrome, vascular type, MIM# 130050
Polymicrogyria with or without vascular-type EDS, MIM# 618343

OMIM

120180

Clinvar variants

Variants in COL3A1

Penetrance

None

Publications

Panels with this gene