Skeletal dysplasia

Gene: SP7

I don't know

OI and decreasing bone density gp of SD, only 2 cases?; Review on behalf of Tracy Lester

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XII 613849

Publications

• 29382611
• 2057926

I don't know

Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.

Created: 11 Dec 2019, 2:11 p.m. | Last Modified: 11 Dec 2019, 2:11 p.m.

Panel Version: 1.262

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: SP7; Initial rating suggestion: amber

Created: 6 Mar 2019, 11:37 a.m.

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM. Only one variant reported

Created: 27 Jul 2016, 10:08 a.m.

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

Created: 27 Jul 2016, 10:07 a.m.

Comment on list classification: Only one variant reported for this phenotype

Created: 11 Jul 2016, 9:54 a.m.

Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza). Only one variant reported

Created: 8 Jul 2016, 1:08 p.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XII 613849

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