Ehlers Danlos syndrome with a likely monogenic cause

Gene: COL11A2

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.

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

Green List (high evidence)

Green List (high evidence)

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.