Skeletal dysplasia
Gene: TWIST1
Craniosynostosis syndrome gp of SD. cranio,digital abnormalities, short stature someimes, green - multiple mutations. Do you report variants in this gene as part of your current diagnostic practice? YES - for CSS; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis, type 1 123100; Robinow-Sorauf syndrome 180750; Saethre-Chotzen syndrome 101400; Saethre-Chotzen syndrome with eyelid anomalies 101400
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; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM and in Craniosynostosis, type 1 123100 and Saethre-Chotzen syndrome 101400 in G2P. Numerous variants reported in Saethre-Chotzen syndrome 101400Created: 1 Aug 2016, 9:34 a.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis, type 1 123100; Robinow-Sorauf syndrome 180750; Saethre-Chotzen syndrome 101400; Saethre-Chotzen syndrome with eyelid anomalies 101400
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Robinow-Sorauf syndrome 180750; Saethre-Chotzen syndrome 101400; Craniosynostosis, type 1 123100; Saethre-Chotzen syndrome with eyelid anomalies 101400 for gene: TWIST1
Source NHS GMS was added to TWIST1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TWIST1 were set to Craniosynostosis, type 1 123100; Robinow-Sorauf syndrome 180750; Saethre-Chotzen syndrome 101400; Saethre-Chotzen syndrome with eyelid anomalies 101400
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 Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
TWIST1 was added to Unexplained skeletal dysplasiapanel. Sources:
TWIST1 was created by sleigh