Renal ciliopathiesGene: SDCCAG8
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 families
Created: 14 Oct 2015, 12:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: SDCCAG8 was added gene: SDCCAG8 was added to Renal 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