Limb disorders
Gene: SDCCAG8Comment on list classification: This gene is a Bardet-Biedl syndrome gene but polydactyly is not part of the phenotype - see clinical features listed in OMIM https://omim.org/entry/615993. Therefore changing the rating of this gene to red on the limb disorders panel.Created: 29 Nov 2019, 10:24 a.m. | Last Modified: 29 Nov 2019, 10:24 a.m.
Panel Version: 1.136
Comment 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, 10:01 p.m. | Last Modified: 25 Nov 2019, 10:01 p.m.
Panel Version: 1.99
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, 11:10 p.m.
Phenotypes for gene: SDCCAG8 were changed from Polydactyly; Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Gene: sdccag8 has been classified as Red List (Low Evidence).
Gene: sdccag8 has been classified as Green List (High Evidence).
Mode of inheritance for gene: SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were changed from Polydactyly to Polydactyly; Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Eleanor Williams: Comment on list classification
Gene: sdccag8 has been removed from the panel.
Gene: sdccag8 has been removed from the panel.
Source Expert Review Removed was added to SDCCAG8. Rating Changed from Red List (low evidence) to No List (delete)
SDCCAG8 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
SDCCAG8 was created by Ellen McDonagh