Skeletal dysplasia
Gene: SP7
OI and decreasing bone density gp of SD, only 2 cases?; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XII 613849
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, 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: amberCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. Only one variant reportedCreated: 27 Jul 2016, 10:08 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 10:07 a.m.
Comment on list classification: Only one variant reported for this phenotypeCreated: 11 Jul 2016, 9:54 a.m.
Comment on list classification: Tier 1 gene for skeletal dysplasia (Ana Beleza). Only one variant reportedCreated: 8 Jul 2016, 1:08 p.m.
Tier 1Created: 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
Gene: sp7 has been classified as Green List (High Evidence).
Added phenotypes Osteogenesis imperfecta, type XII 613849 for gene: SP7 Publications for gene SP7 were changed from 20579626 to 2057926; 29382611
Source NHS GMS was added to SP7.
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for SP7 were set to Osteogenesis imperfecta, type XII 613849
This gene has been classified as Green List (High Evidence).
Publications for SP7 were set to 20579626
This gene has been classified as Red List (Low Evidence).
SP7 was added to Unexplained skeletal dysplasiapanel. Source: Expert SP7 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen SP7 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services SP7 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory SP7 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene SP7 was set to BIALLELIC, autosomal or pseudoautosomal
SP7 was added to Unexplained skeletal dysplasiapanel. Sources:
SP7 was created by sleigh