CSS is not a feature but the cranium may have abnormal shape (brachycephaly with temporal narrowing). Horiuchi et al 2004 report a case with CSS. On Fulgent CSS panel ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
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: TCOF1; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Treacher-Collins syndrome for gene: TCOF1
gene: TCOF1 was added gene: TCOF1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: TCOF1 was set to