Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: TCF12

No list

TCF12 (transcription factor 12)
EnsemblGeneIds (GRCh38): ENSG00000140262
EnsemblGeneIds (GRCh37): ENSG00000140262
OMIM: 600480, Gene2Phenotype
TCF12 is in 10 panels

5 reviews

Rhoda Akilapa (North West Thames Regional Genetics Service)

?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

Tracy Lester (Genetics laboratory, Oxford UK)

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

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

Eleanor Williams (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Craniosynostosis 3 615314
Tags
curated_removed
OMIM
600480
Clinvar variants
Variants in TCF12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: TCF12.

28 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: tcf12 has been removed from the panel.

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Craniosynostosis 3 615314 for gene: TCF12

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TCF12. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TCF12 were set to Craniosynostosis 3 615314

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

TCF12 was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

7 Jul 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TCF12 were set to 23354436

17 Jun 2016, Gel status: 0

Added New Source

Ana Beleza (Bristol Regional Genetics Service)

TCF12 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

17 Jun 2016, Gel status: 0

Created

Ana Beleza (Bristol Regional Genetics Service)

TCF12 was created by anabeleza