Skeletal dysplasia

Gene: CREB3L1

I don't know

OI and decreasing bone density gp of SD. 2 unrelated cases reported.; 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 XVI 616229

Publications

• 25007323
• 28817112
• 29936144.

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, 1:59 p.m. | Last Modified: 11 Dec 2019, 2:01 p.m.

Panel Version: 1.256

Comment on list classification: Decided to wait for GMS approval before upgrading to green. Demoting back to red.

Created: 9 Sep 2019, 9:47 p.m. | Last Modified: 9 Sep 2019, 9:49 p.m.

Panel Version: 1.200

Comment on list classification: Upgrading from red to green. Is Green on the Osteogenesis imperfecta panel and 4 cases reported.

Created: 9 Sep 2019, 9:33 p.m. | Last Modified: 9 Sep 2019, 9:46 p.m.

Panel Version: 1.198

4 cases now reported each in a publication (PMID: 24079343 - whole gene deletion, PMID: 28817112 - 3bp in-frame deletion (c.934_936delAAG [p.Lys312del], PMID: 29936144 - premature stop codon c.1284C>A; p.Tyr428*, PMID: 30657919 - homozygous missense variant (p.(Ala304Val))

Created: 9 Sep 2019, 9:30 p.m. | Last Modified: 9 Sep 2019, 9:30 p.m.

Panel Version: 1.193

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: CREB3L1; Initial rating suggestion: Amber

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

Comment when marking as ready: Not associated with phenotype in OMIM nor G2P. Only one variant reported

Created: 28 Jul 2016, 8:45 a.m.

Green List (high evidence)

Tier 1

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta 616229

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