Osteogenesis imperfecta

Gene: COL11A1

I don't know

Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it was decided to keep this gene red as it is associated with Stickler syndrome which is covered by other panels.

Created: 11 Jun 2019, 2:11 p.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: green

Created: 3 Apr 2019, 4:08 p.m.

Green List (high evidence)

Following discussion with Dr Balasubramanian - rate green

Created: 3 Apr 2019, 4:14 p.m.

Overlapping features

Created: 25 Jan 2019, 12:01 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
ibrochondrogenesis 1228520; Stickler syndrome, type II 604841

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stickler Syndrome Type II; Marshall Syndrome

Publications

• 17236192

Variants in this GENE are reported as part of current diagnostic practice

Comment when marking as ready: Reviewed in MDT and left as red as specifically a Stickler gene

Created: 10 May 2016, 12:37 p.m.

Green List (high evidence)

Overlapping features

Created: 27 Nov 2015, 3:03 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal