Sewda et al 2019 reported BBS9 c.2209C>G:p.(Leu737Val) paternally inherited variant in a patient with coronal nonsyndromic craniosynostosis. BBS9 gene required for ciliogenesis during cranial suture development. Previously known as PTHB1 ; Review on behalf of GOSH/Tracy Lester
Created: 5 Mar 2019, 11:33 a.m.
Bardet-Biedl syndrome 9, 615986
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: BBS9; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Bardet-Biedl syndrome 9 615986 for gene: BBS9
gene: BBS9 was added gene: BBS9 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: BBS9 was set to