Skeletal ciliopathies
Gene: SDCCAG8Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)Created: 28 Nov 2019, 3:32 p.m. | Last Modified: 28 Nov 2019, 3:32 p.m.
Panel Version: 0.39
From OMIM:
No polydactyly - Bardet-Biedl syndrome 16
No skeletal phenotype in Senior-Loken syndrome 7Created: 11 Jul 2019, 1:32 p.m. | Last Modified: 11 Jul 2019, 1:32 p.m.
Panel Version: 0.5
Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).Created: 4 Aug 2016, 3:55 p.m.
Comment on list classification: Good evidence in SENIOR-LOKEN SYNDROME, some evidence in BBS in OMIM. On DDG2P as confirmed biallelic LOF.Created: 17 Dec 2015, 2:54 p.m.
Mutations identified in five BBS familiesCreated: 14 Oct 2015, 12:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613615
Publications
Tag curated_removed tag was added to gene: SDCCAG8.
Gene: sdccag8 has been removed from the panel.
gene: SDCCAG8 was added gene: SDCCAG8 was added to Skeletal ciliopathies. Sources: Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDCCAG8 were set to 22190896 Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME; Bardet-Biedl Syndrome; 613615; Senior-Loken syndrome