Limb disorders
Gene: BBS12Comment 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, 5:28 p.m. | Last Modified: 25 Nov 2019, 5:28 p.m.
Panel Version: 1.74
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, 10:39 p.m.
Gene: bbs12 has been classified as Green List (High Evidence).
Phenotypes for gene: BBS12 were changed from Polydactyly to Polydactyly; Bardet Biedl syndrome 12, 615989
Mode of inheritance for gene: BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Eleanor Williams: Comment on list classification
Gene: bbs12 has been removed from the panel.
Gene: bbs12 has been removed from the panel.
Source Expert Review Removed was added to BBS12. Rating Changed from Red List (low evidence) to No List (delete)
BBS12 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
BBS12 was created by Ellen McDonagh