Ehlers Danlos syndromes

Gene: COL11A2

No list

COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 16 panels

5 reviews

Eleanor Williams (Genomics England Curator)

I don't know

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: COL11A2; Suggested initial gene rating: red
Created: 3 Apr 2019, 3:41 p.m.

Duncan Baker (Sheffield Genetics)

Red List (low evidence)

d/w Dr D Johnson (Sheffield genetics). Not enough phenotype overlap with EDS.
HGMD - only pathogenic mutations reported associated with Sticker, deafness and Otospondylomegaepiphyseal dysplasia
Created: 24 Jan 2019, 12:39 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840; autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications to represent the more wider context of this panel concerning connective tissue disorders
Created: 10 May 2017, 12:59 p.m.
Comment on mode of inheritance: panel includes more than one connective tissue disorder so MOI can differ depending on assigned disorder
Created: 10 May 2017, 12:52 p.m.
Comment from Allan Richards (University of Cambridge) regarding Stickler Syndrome. Splice site mutations and missense substitutions of Glycines within the repeating Gly-Xaa-Yaa amino acid sequence of the collagen are pathogenic
Created: 10 May 2017, 12:44 p.m.
Comment on publications: added publications for Stickler syndrome phenotype
Created: 10 May 2017, 9:46 a.m.
Review from Arianna Tucci : On panel as can present with joint laxity
Created: 9 May 2017, 3:24 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Stickler syndrome, type III, (AD),184840
  • Otospondylomegaepiphyseal dysplasia,(AR) 215150
  • Weissenbacher-Zweymuller syndrome, (AD), 277610
  • Fibrochondrogenesis 2, (AR,AD), 614524
  • Connective Tissue Disorders
  • autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840
  • autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
OMIM
120290
Clinvar variants
Variants in COL11A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col11a2 has been removed from the panel.

15 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL11A2 were changed from Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders to Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders; autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840; autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL11A2. 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.

10 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL11A2 were set to 7859284; 9506662; 15372529; 25240749; 20301479;9805126;15558753;7859284;10677296;16637051;22246659;22246659

10 May 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL11A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL11A2 were set to Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders

10 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL11A2 were set to 7859284; 9506662; 15372529; 25240749; 20301479

10 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL11A2 were set to 7859284;9506662;15372529;25240749

10 May 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

COL11A2 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN

10 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL11A2 were set to Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524;Connective Tissue Disorders;

4 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL11A2 were set to Stickler syndrome, type III,184840; Connective Tissue Disorders

4 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL11A2 were set to Stickler syndrome, type III,184840;

4 May 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL11A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A2 was added to Ehlers-Danlos syndromespanel. Sources: Expert list

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL11A2 was created by ellenmcdonagh