Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: TWIST1
Prescreened in R99 ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Saethre-Chotzen syndrome, 101400; Saethre-Chotzen syndrome with eyelid anomalies, 101400; Craniosynostosis, type 1, 123100; Robinow-Sorauf syndrome, 180750
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: TWIST1; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 12:01 p.m.
Source NHS GMS was added to TWIST1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for TWIST1 were set to 8988166; 8988167
Mode of inheritance for TWIST1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TWIST1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
TWIST1 was added to Craniosynostosis syndromespanel. Sources: Expert list
TWIST1 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen