Aortopathy_Connective Tissue Disorders
Gene: C1RComment 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
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 delinsCreated: 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
Gene: c1r has been classified as Green List (High Evidence).
Phenotypes for gene: C1R were changed from to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)
Publications for gene: C1R were set to
Mode of inheritance for gene: C1R was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: C1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: c1r has been classified as Green List (High Evidence).
gene: C1R was added gene: C1R was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C1R was set to Unknown