Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: TCF12EnsemblGeneIds (GRCh38): ENSG00000140262
EnsemblGeneIds (GRCh37): ENSG00000140262
OMIM: 600480, Gene2Phenotype
TCF12 is in 10 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Prescreened in R99 ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis 3, 615314; Craniosynostosis 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Eleanor Williams (Genomics England Curator)
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; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Andrew Wilkie (University of Oxford)
Goos et al (2016) identified partial gene deletions and a duplication in TCF12; these may be cryptic and should be sought specifically. No MLPA test available at present.Created: 11 Nov 2016, 12:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
TCF12-related craniosynostosis ranges from Saethre-Chotzen-like syndrome to non-syndromic coronal synostosis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (Genomics England Curator)
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 10:13 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Craniosynostosis 3, 615314
- Craniosynostosis 3
- OMIM
- 600480
- Clinvar variants
- Variants in TCF12
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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)
Set publications
Richard Scott (Genomics England Curator)Publications for TCF12 were set to 23354436; 25271085; 24736737
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TCF12 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)TCF12 was added to Craniosynostosis syndromespanel. Sources: Expert list
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene TCF12 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)TCF12 was added to Craniosynostosis syndromespanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)TCF12 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen