Ehlers Danlos syndromes

Gene: COL2A1

No list

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 21 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: 31 Jul 2019, 11:20 a.m. | Last Modified: 31 Jul 2019, 11:20 a.m.
Panel Version: 1.61
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: COL2A1; 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. Not enough phenotypic overlap for EDS panel
Created: 24 Jan 2019, 12:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stickler syndrome

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, 1:11 p.m.
Comment from Allan richards (University of Cambridge) regarding Stickler Syndrome: Splice site mutations and missense substitutions of Glycines within the Gly-Xaa-Yaa repeating amino acid sequence of the collagen are pathogenic.
Created: 10 May 2017, 1:08 p.m.
Review from Arianna Tucci : On panel as can present with joint laxity
Created: 10 May 2017, 10:33 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • NHS GMS
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Stickler syndrome, type I, 108300
  • Connective Tissue Disorders
  • Kniest dysplasia, 156550
  • Achondrogenesis, type II or hypochondrogenesis, 200610
  • SED congenita, 183900
  • SMED Strudwick type, 184250
  • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Tags
curated_removed
OMIM
120140
Clinvar variants
Variants in COL2A1
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: COL2A1.

31 Jul 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col2a1 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 COL2A1. 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 COL2A1 were set to 16752401; 20513134; 10486316; 25240749; 20301479;

10 May 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL2A1 were set to 16752401; 20513134; 10486316; 25240749; 20301479

10 May 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

COL2A1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

10 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL2A1 were set to 16752401;20513134; 10486316; 25240749

10 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL2A1 were set to Stickler syndrome, type I, 108300; Connective Tissue Disorders; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450

4 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL2A1 were set to Stickler syndrome, type I, 108300;Connective Tissue Disorders

4 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL2A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Emory Genetics Laboratory

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL2A1 was created by ellenmcdonagh