Skeletal dysplasia
Gene: CREB3L1
OI and decreasing bone density gp of SD. 2 unrelated cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XVI 616229
Publications
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: AmberCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Not associated with phenotype in OMIM nor G2P. Only one variant reportedCreated: 28 Jul 2016, 8:45 a.m.
Tier 1Created: 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
Gene: creb3l1 has been classified as Green List (High Evidence).
Gene: creb3l1 has been classified as Red List (Low Evidence).
Publications for gene: CREB3L1 were set to 25007323; 29936144.; 28817112
Gene: creb3l1 has been classified as Green List (High Evidence).
Added phenotypes Osteogenesis imperfecta, type XVI 616229 for gene: CREB3L1 Publications for gene CREB3L1 were changed from 25007323 to 25007323; 29936144.; 28817112
Source NHS GMS was added to CREB3L1.
Promoted to version 1 9th August 2016
Phenotypes for CREB3L1 were set to Osteogenesis imperfecta, type XVI 616229
This gene has been classified as Red List (Low Evidence).
Phenotypes for CREB3L1 were set to Severe osteogenesis imperfecta 616229
Phenotypes for CREB3L1 were set to Severe osteogenesis imperfecta 616229
Publications for CREB3L1 were set to 25007323
CREB3L1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review CREB3L1 was added to Unexplained skeletal dysplasiapanel. Source: Literature Model of inheritance for gene CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
CREB3L1 was added to Unexplained skeletal dysplasiapanel. Sources:
CREB3L1 was created by sleigh