Bardet Biedl syndrome
Gene: SDCCAG8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 16 615993; Senior-Loken syndrome 7 613615
Publications
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
Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl Syndrome, 615993; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Source NHS GMS was added to SDCCAG8. Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8 Publications for gene SDCCAG8 were changed from to 20835237
gene: SDCCAG8 was added gene: SDCCAG8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl Syndrome, 615993