Skeletal dysplasia

Gene: TWIST1

Green List (high evidence)

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 Oldridge

Created: 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

I don't know

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: green

Created: 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 101400

Created: 1 Aug 2016, 9:34 a.m.

Green List (high evidence)

Tier 1

Created: 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