Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: TCF12
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
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.
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
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 10:13 a.m.
Source NHS GMS was added to TCF12. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for TCF12 were set to 23354436; 25271085; 24736737
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TCF12 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
TCF12 was added to Craniosynostosis syndromespanel. Sources: Expert list
Model of inheritance for gene TCF12 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TCF12 was added to Craniosynostosis syndromespanel. Sources: UKGTN
TCF12 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen