Ehlers Danlos syndromes

Gene: C1R

Green List (high evidence)

C1R (complement C1r)
EnsemblGeneIds (GRCh38): ENSG00000159403
EnsemblGeneIds (GRCh37): ENSG00000159403
OMIM: 613785, Gene2Phenotype
C1R is in 4 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 1, 130080;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII;Ehlers-Danlos Syndrome periodontitis type;EDSVIII;EDSPD1
Created: 18 Mar 2021, 1:34 p.m. | Last Modified: 18 Mar 2021, 1:34 p.m.
Panel Version: 2.14

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: C1R; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review from Dr Anthony Vandersteen, IWK Health centre in Halifax, Nova Scotia, Canada - 'I would shift the pEDS genes (C1R C1S) to green, lots of patients and no doubt about it'
Created: 25 Apr 2017, 2:06 p.m.
Comment on list classification: changed status from Amber to Green due to expert review comments from Dr Anthony Vandersteen and evidence in the literature
Created: 25 Apr 2017, 12:46 p.m.
Comment on publications: Added publication to support number of cases to date with Periodontal Ehlers-Danlos syndrome. Kapferer-Seebacher et al., 2016 (PMID:27745832) reported 15 unrelated families of 76 affected individuals (which included 8 cases previously reported) and identified heterozygosity for missense or in-frame insertion/deletion mutations in the C1R gene. It was found that the mutations segregated with disease in the families and neither was found in the ExAC, 1000 Genomes Project, ClinVar, or dbSNP (March 2016) databases. It was noted that heterozygous C1R variants identified in pEDS-affected individuals appeared to have gain-of-function effects.


Created: 7 Apr 2017, 10:08 a.m.
Awaiting expert review on whether this can be made Green
Created: 6 Apr 2017, 3:57 p.m.
Periodontal EDS is a distinct clinical entity shown to be caused by alterations in the genes C1R and C1S, the genes encode complement 1 subunits C1r and C1s.The cardinal clinical feature is severe early-onset periodontitis with marked gingival recessions that in some individuals affects primary teeth. In contrast to individuals with non-syndromic chronic or aggressive periodontitis, those with pEDS have strikingly thin and fragile oral soft tissue with absence of attached gingiva (PMID:28306225).
Created: 6 Apr 2017, 3:28 p.m.
Comment on phenotypes: Added more phenotypes form Orphanet and OMIM
Created: 6 Apr 2017, 1:08 p.m.
In relation to the EDS pathogenetic scheme, C1R belongs to 'Disorders of complement pathway'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.
Created: 6 Apr 2017, 12:31 p.m.
Comment on phenotypes: added synonyms
Created: 30 Mar 2017, 10:24 a.m.
This is a rare dominant form of EDS
Created: 30 Mar 2017, 10:12 a.m.
Added from 2017 International Classification of the Ehlers–Danlos Syndromes (PMID:28306229) and The Ehlers–Danlos Syndromes, rare types (PMID:28306225).
To be reviewed further for consideration as a Green gene.
Created: 30 Mar 2017, 10:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Periodontal Ehlers-Danlos syndrome; Periodontal EDS (pEDS)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
OMIM
613785
Clinvar variants
Variants in C1R
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: C1R were changed from Ehlers-Danlos syndrome periodontal type 1, 130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers-Danlos Syndrome periodontitis type; EDSVIII; EDSPD1 to Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to C1R. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Apr 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for C1R were set to 27745832; 28306229; 28306225

6 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Apr 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for C1R were set to 27745832; 28306229; 28306225; 27745832

6 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for C1R were set to Ehlers-Danlos syndrome periodontal type 1, 130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers-Danlos Syndrome periodontitis type; EDSVIII; EDSPD1

6 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for C1R were set to Ehlers-Danlos syndrome periodontal type 1, 130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers– Danlos Syndrome periodontitis type; EDSVIII; EDSPD1

6 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for C1R were set to Ehlers–Danlos Syndrome periodontosis type 1,130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers– Danlos Syndrome periodontitis type; EDSVIII

6 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for C1R were set to Ehlers–Danlos Syndrome periodontosis type,130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers– Danlos Syndrome periodontitis type; EDSVIII

6 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for C1R were set to Ehlers–Danlos Syndrome periodontosis type, 130080;Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers– Danlos Syndrome periodontitis type; EDSVIII

30 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for C1R were set to Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers– Danlos Syndrome periodontitis type; Ehlers–Danlos Syndrome periodontosis type

30 Mar 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

C1R was created by LouiseD

30 Mar 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

C1R was added to Ehlers-Danlos syndromespanel. Sources: Literature