Osteogenesis imperfecta
Gene: COL11A2
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: COL11A2; 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 phenotypeCreated: 25 Jan 2019, 12:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Otospondylomegaepiphyseal dysplasia 184840
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stickler Syndrome, Type III
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Discussed in MDT, agreed specific Stickler gene not OICreated: 10 May 2016, 12:39 p.m.
Overlapping featuresCreated: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were changed from Disproportionate Short Stature; Stickler Syndrome, Type III to Disproportionate Short Stature; Stickler Syndrome, Type III; Otospondylomegaepiphyseal dysplasia 184840
Source NHS GMS was added to COL11A2.
Phenotypes for COL11A2 were set to Disproportionate Short Stature; Stickler Syndrome, Type III
Phenotypes for COL11A2 were set to Disproportionate Short Stature Stickler Syndrome, Type III
Publications for COL11A2 were set to 7859284; 9506662; 15372529
This gene has been classified as Red List (Low Evidence).
COL11A2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory