Skeletal dysplasia

Gene: COL1A2

Green List (high evidence)

OI and decreasing bone density gp of SD. OI and EDS type 2 - AD. EDS cardiac type - AR.Cardiac valvular type doesn't really have SD, so red? Green for AD phenotypes.; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal OR MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (if exclude 255320)

Phenotypes
Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220

I don't know

The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 2:18 p.m. | Last Modified: 30 Jan 2023, 2:30 p.m.

Panel Version: 3.5

Comment on mode of inheritance: Leaving the mode of inheritance as Both mono and biallelic for now, but adding a tag for GMS review. Only Ehlers-Danlos syndrome, cardiac valvular type is biallelic, and this phenotype may not be within scope of the Skeletal dysplasia panel.

Created: 14 Apr 2022, 10:43 a.m. | Last Modified: 14 Apr 2022, 10:43 a.m.

Panel Version: 2.204

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL1A2; Initial rating suggestion: Green or OI/EDS?

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 9:28 a.m.

Comment when marking as ready: Numerous variants reported in these phenotypes

Created: 13 Jul 2016, 8:16 a.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220

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