Skeletal dysplasia
Gene: TCF12?remove fro SD panel as Brachydactyly mentioned but mainly craniofacial features. Already on craniosynostosis panel.Created: 6 Sep 2019, 3:33 p.m. | Last Modified: 6 Sep 2019, 3:33 p.m.
Panel Version: 1.193
Phenotypes
Craniosynostosis
Craniosynostosis syndrome gp of SD. Do you report variants in this gene as part of your current diagnostic practice? YES - for CSS; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis 3 615314
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Making this gene grey as there is agreement from GMS musculoskeletal group (Tracy Lester) that there is no major skeletal involvement. It is green on the Craniosynostosis panel.Created: 28 Nov 2019, 11:32 a.m. | Last Modified: 28 Nov 2019, 11:32 a.m.
Panel Version: 1.246
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: TCF12; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 7 Jul 2016, 9:35 a.m.
Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)Created: 7 Jul 2016, 9:34 a.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis 3 615314
Variants in this GENE are reported as part of current diagnostic practice
Tag curated_removed tag was added to gene: TCF12.
Gene: tcf12 has been removed from the panel.
Added phenotypes Craniosynostosis 3 615314 for gene: TCF12
Source NHS GMS was added to TCF12. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TCF12 were set to Craniosynostosis 3 615314
This gene has been classified as Green List (High Evidence).
TCF12 was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Publications for TCF12 were set to 23354436
TCF12 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
TCF12 was created by anabeleza