Common craniosynostosis syndromes
Gene: TCF12EnsemblGeneIds (GRCh38): ENSG00000140262
EnsemblGeneIds (GRCh37): ENSG00000140262
OMIM: 600480, Gene2Phenotype
TCF12 is in 10 panels
1 review
Eleanor Williams (Genomics England Curator)
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 OMIM:615314
- OMIM
- 600480
- Clinvar variants
- Variants in TCF12
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TCF12 were changed from Craniosynostosis 3 615314 to Craniosynostosis 3 OMIM:615314
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