GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TCF12

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

1 review

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, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS

Phenotypes

Craniosynostosis 3 615314

OMIM

600480

Clinvar variants

Variants in TCF12

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TCF12 was added gene: TCF12 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCF12 were set to Craniosynostosis 3 615314

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: TCF12