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Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL2A1

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 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.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

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

Created: 24 Jan 2019, 12:31 p.m.

Panel version: 1.43

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:28 p.m.

Panel version: 0.401

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.

Created: 10 May 2017, 10:33 a.m.

Panel version: 0.319

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