Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: TWIST2
A de novo variant (p.Arg64His) was identified within the Timberlake exome sequencing cohort of patients with lambdoid synostosis (PMID:31292255).Created: 23 Jul 2023, 7:52 p.m. | Last Modified: 23 Jul 2023, 7:52 p.m.
Panel Version: 4.166
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
craniosynostosis, MONDO:0015469
Publications
Dysmorphism but no documented CSS? On Blueprint genetics CSS panel ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Phenotypes
Ablepharon-macrostomia syndrome; Barber-Say syndrome; Focal facial dermal dysplasia 3, Setleis type
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: TWIST2; Suggested initial gene rating: redCreated: 5 Mar 2019, 11:21 a.m.
Publications for gene: TWIST2 were set to
Mode of inheritance for gene: TWIST2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Focal facial dermal dysplasia 3, Setleis type; Barber-Say syndrome; Ablepharon-macrostomia syndrome for gene: TWIST2
gene: TWIST2 was added gene: TWIST2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: TWIST2 was set to