No CSS mentioned in cases on OMIM. Searle et al 2014 Clin Dys 23:12 report a case with sagittal CSS. On Fulgent CSS panel. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Spondyloepiphyseal dysplasia with congenital joint dislocations
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: CHST3; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations for gene: CHST3
gene: CHST3 was added gene: CHST3 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CHST3 was set to