No mention of CSS in OMIM. On Blueprint genetics CSS panel. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Hirschprung disease; ABCD syndrome; Waardenburg syndrome
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: EDNRB; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Waardenburg syndrome; ABCD syndrome; Hirschprung disease for gene: EDNRB
gene: EDNRB was added gene: EDNRB was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: EDNRB was set to