Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL11A1EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels
5 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.Created: 11 Jun 2019, 11:06 a.m.
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: COL11A1; Suggested initial gene rating: redCreated: 3 Apr 2019, 3:41 p.m.
Duncan Baker (Sheffield Genetics)
d/w Dr D Johnson (Sheffield Clinical genetics). Not enough overlap with EDS.Created: 24 Jan 2019, 12:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marshal syndrome; Stickler syndrome, type II 604841
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
Review from Arianna Tucci : On panel as can present with joint laxityCreated: 9 May 2017, 3:24 p.m.
Comment on mode of inheritance: There are rare biallelic recessive forms of Stickler syndrome type II and Marshall syndromeCreated: 9 May 2017, 3:04 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- NHS GMS
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Stickler syndrome, type II, 604841
- Connective Tissue Disorders
- Marshall syndrome, 154780
- Fibrochondrogenesis, 228520
- Tags
- OMIM
- 120280
- Clinvar variants
- Variants in COL11A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Clefting
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: COL11A1.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: col11a1 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COL11A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL11A1 were set to 10573014; 23922384; 20513134; 8872475;20301479
Upload gene information
Louise Daugherty (Genomics England Curator)COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: UKGTN
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL11A1 were set to Stickler syndrome, type II, 604841; Connective Tissue Disorders; Marshall syndrome, 154780; Fibrochondrogenesis, 228520
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL11A1 were set to Stickler syndrome, type II, (AD), 604841; Connective Tissue Disorders; Marshall syndrome, (AD), 154780; Fibrochondrogenesis, (AR), 228520
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL11A1 were set to 10573014; 23922384; 20513134; 8872475
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL11A1 were set to 10573014; 23922384; 20513134; 8872475;
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL11A1 were set to Stickler syndrome, type II, (AD), 604841; Connective Tissue Disorders; Marshall syndrome, (AD), 154780; Fibrochondrogenesis (AR), 228520
Upload gene information
Louise Daugherty (Genomics England Curator)COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL11A1 were set to Stickler syndrome, type II (AD), 604841; Connective Tissue Disorders; Marshall syndrome, (AD), 154780; Fibrochondrogenesis (AR), 228520
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL11A1 were set to Stickler syndrome, type II, 604841; Connective Tissue Disorders
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for COL11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL11A1 were set to Stickler syndrome, type II; Connective Tissue Disorders
Created
Ellen McDonagh (Genomics England Curator)COL11A1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Emory Genetics Laboratory