Skeletal dysplasia

Gene: TCOF1

?remove from SD panel, as already on Craniosynostosis panel. Limb anomalies very rare- 1.5% (1/67)

Created: 6 Sep 2019, 3:34 p.m. | Last Modified: 6 Sep 2019, 3:34 p.m.

Panel Version: 1.193

Green List (high evidence)

Dysostoses with predominant craniofacial involvement gp of SD - several cases.Do you report variants in this gene as part of your current diagnostic practice? YES - for TCS; Review on behalf of Tracy Lester

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher Collins syndrome 1 154500

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

I don't know

Comment from Tracy Lester - TCOF1 should stay on the skeletal dysplasia panel in the absence of a specific craniofacial panel. It is currently red on the Craniosynostosis panel (https://panelapp.genomicsengland.co.uk/panels/168/gene/TCOF1/)

Created: 28 Nov 2019, 11:37 a.m. | Last Modified: 28 Nov 2019, 11:37 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: TCOF1; Initial rating suggestion: green

Created: 6 Mar 2019, 11:37 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported

Created: 1 Aug 2016, 8:10 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
Treacher Collins syndrome 1 154500

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