Aortopathy_Connective Tissue Disorders

Gene: C1R

Green List (high evidence)

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

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

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

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c1r has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: C1R were changed from to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)

1 Jul 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: C1R were set to

1 Jul 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: C1R was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Jul 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: C1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c1r has been classified as Green List (High Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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