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Common craniosynostosis syndromes

Gene: TCF12

Green List (high evidence)

TCF12 (transcription factor 12)
EnsemblGeneIds (GRCh38): ENSG00000140262
EnsemblGeneIds (GRCh37): ENSG00000140262
OMIM: 600480, Gene2Phenotype
TCF12 is in 8 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of a list taken from the National Genomics Test Directory entry for R99 Common craniosynostosis syndromes. Submitted Gene Symbol: TCF12.
Created: 2 Apr 2019, 4:05 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Expert Review Green
Phenotypes
  • Craniosynostosis 3 615314
OMIM
600480
Clinvar variants
Variants in TCF12
Penetrance
None
Panels with this gene

History Filter Activity

2 Apr 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 Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS 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