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

Green List (high evidence)

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 Lester

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Craniosynostosis 3 615314

Publications

• 23354436

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

I don't know

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: green

Created: 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.

Green List (high evidence)

Tier 2

Created: 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