Ehlers Danlos syndromes

Gene: COL11A1

No list

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 18 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: COL11A1; 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 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)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Review from Arianna Tucci : On panel as can present with joint laxity
Created: 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 syndrome
Created: 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
curated_removed
OMIM
120280
Clinvar variants
Variants in COL11A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: COL11A1.

11 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col11a1 has been removed from the panel.

13 Mar 2019, Gel status: 3

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)

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 COL11A1 were set to 10573014; 23922384; 20513134; 8872475;20301479

10 May 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: UKGTN

10 May 2017, Gel status: 4

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

9 May 2017, Gel status: 4

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

9 May 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).

9 May 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL11A1 were set to 10573014; 23922384; 20513134; 8872475

9 May 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL11A1 were set to 10573014; 23922384; 20513134; 8872475;

9 May 2017, Gel status: 2

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

9 May 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen

9 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 May 2017, Gel status: 1

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

4 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL11A1 were set to Stickler syndrome, type II, 604841; Connective Tissue Disorders

4 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL11A1 were set to Stickler syndrome, type II; Connective Tissue Disorders

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL11A1 was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Emory Genetics Laboratory