Aortopathy_Connective Tissue Disorders
Gene: C1R

C1R (complement C1r)
EnsemblGeneIds (GRCh38): ENSG00000159403
EnsemblGeneIds (GRCh37): ENSG00000159403
OMIM: 613785, Gene2Phenotype
C1R is in 5 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)
Created: 1 Jul 2020, 5:36 a.m. | Last Modified: 1 Jul 2020, 5:36 a.m.

Panel Version: 0.103

Created: 1 Jul 2020, 5:36 a.m.
Last Modified: 1 Jul 2020, 5:36 a.m.
Panel version: 0.103

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30071989; not listed as a Heritable Thoracic Aortic Aneurysm and Dissection gene by clingen working group

PMID: 27745832; total of 15 families with mostly missense reported and 2 delins
Created: 25 Jun 2020, 1:14 a.m. | Last Modified: 25 Jun 2020, 1:14 a.m.

Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)

Publications

PMID: 30071989
27745832

Created: 25 Jun 2020, 1:14 a.m.
Last Modified: 25 Jun 2020, 1:14 a.m.
Panel version: 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)

OMIM

613785

Clinvar variants

Variants in C1R

Penetrance

None

Publications

Panels with this gene