No skeletal defects reported in the Joubert cases (OMIM). CSS not mentioned for the thoracic dysplasia cases either. On Fulgent CSS panel. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Joubert syndrome 31; short rib thoracic dysplasia 13 +/- polydactyly
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: CEP120; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes short rib thoracic dysplasia 13 +/- polydactyly; Joubert syndrome 31 for gene: CEP120
gene: CEP120 was added gene: CEP120 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CEP120 was set to