Limb disorders
Gene: BBS4Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.Created: 25 Nov 2019, 5:36 p.m. | Last Modified: 25 Nov 2019, 5:36 p.m.
Panel Version: 1.80
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:40 p.m.
Gene: bbs4 has been classified as Green List (High Evidence).
Phenotypes for gene: BBS4 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 4, 615982
Mode of inheritance for gene: BBS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Eleanor Williams: Comment on list classification
Gene: bbs4 has been removed from the panel.
Gene: bbs4 has been removed from the panel.
Source Expert Review Removed was added to BBS4. Rating Changed from Red List (low evidence) to No List (delete)
BBS4 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
BBS4 was created by Ellen McDonagh