Aortopathy_Connective Tissue Disorders
Gene: C1SComment on list classification: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229)Created: 1 Jul 2020, 6:02 a.m. | Last Modified: 1 Jul 2020, 6:02 a.m.
Panel Version: 0.107
PMID: 30071989; not listed as a Heritable Thoracic Aortic Aneurysm and Dissection gene by clingen working group
PMID: 27745832; total of 2 families with 9 affected individuals. 1x missense and 1x inframe del. Authors suggested gain-of-function however in vitro studies by PMID: 31921203 demonstrated reduced C4 cleavage by mutant proteinsCreated: 25 Jun 2020, 1:43 a.m. | Last Modified: 25 Jun 2020, 1:43 a.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: C1S were set to 30071989; 27745832; 31921203; 28306229
Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) to Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174
Gene: c1s has been classified as Green List (High Evidence).
Publications for gene: C1S were set to 30071989; 27745832; 31921203
Gene: c1s has been classified as Amber List (Moderate Evidence).
Gene: c1s has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: C1S were changed from to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)
Publications for gene: C1S were set to
Mode of inheritance for gene: C1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: c1s has been classified as Amber List (Moderate Evidence).
gene: C1S was added gene: C1S was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C1S was set to Unknown