Dysmorphic but no CSS mentioned specifically (HMG 2014 133:1161). On Fulgent CSS panel. Genetically heterogeneous condition: Also FAT4. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Hennekam-lymphangiectasia-lymphedema syndrome 1 - 235510
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: CCBE1; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Hennekam-lymphangiectasia-lymphedema syndrome 1 235510 for gene: CCBE1
gene: CCBE1 was added gene: CCBE1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CCBE1 was set to