Aortopathy_Connective Tissue Disorders
Gene: C1S

C1S (complement C1s)
EnsemblGeneIds (GRCh38): ENSG00000182326
EnsemblGeneIds (GRCh37): ENSG00000182326
OMIM: 120580, Gene2Phenotype
C1S is in 3 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, 6:02 a.m. | Last Modified: 1 Jul 2020, 6:02 a.m.

Panel Version: 0.107

Created: 1 Jul 2020, 6:02 a.m.
Last Modified: 1 Jul 2020, 6:02 a.m.
Panel version: 0.107

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 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 proteins
Created: 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

Created: 25 Jun 2020, 1:43 a.m.
Last Modified: 25 Jun 2020, 1:43 a.m.
Panel version: 1.66

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174

OMIM

120580

Clinvar variants

Variants in C1S

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C1S were set to 30071989; 27745832; 31921203; 28306229

15 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) to Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c1s has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: C1S were set to 30071989; 27745832; 31921203

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c1s has been classified as Amber List (Moderate Evidence).

25 Jun 2020, Gel status: 2