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
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 LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 8:10 a.m.
Tier 2Created: 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
Added phenotypes Treacher Collins syndrome 1 154500 for gene: TCOF1
Source NHS GMS was added to TCOF1. 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 TCOF1 were set to Treacher Collins syndrome 1 154500
Mode of inheritance for TCOF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TCOF1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TCOF1 was created by sleigh
TCOF1 was added to Unexplained skeletal dysplasiapanel. Sources: