Osteogenesis imperfecta
Gene: COL11A1
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: greenCreated: 3 Apr 2019, 4:08 p.m.
Following discussion with Dr Balasubramanian - rate greenCreated: 3 Apr 2019, 4:14 p.m.
Overlapping featuresCreated: 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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stickler Syndrome Type II; Marshall Syndrome
Publications
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 geneCreated: 10 May 2016, 12:37 p.m.
Overlapping featuresCreated: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were changed from Disproportionate Short Stature to Disproportionate Short Stature; ibrochondrogenesis 1228520; Stickler syndrome, type II 604841; Marshall Syndrome 154780
Publications for gene: COL11A1 were set to
Source NHS GMS was added to COL11A1.
This gene has been classified as Red List (Low Evidence).
COL11A1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory