Unexplained young onset end-stage renal disease
Gene: BBS1
Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/Created: 11 Nov 2019, 11:08 p.m. | Last Modified: 11 Nov 2019, 11:08 p.m.
Panel Version: 0.75
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Comment on list classification: BBS gene - not including syndromic genes on this panel.Created: 10 May 2016, 10:04 a.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 10:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome type 1
Publications
Phenotypes for gene: BBS1 were changed from Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome type 1 209900 to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Gene: bbs1 has been classified as Green List (High Evidence).
Phenotypes for gene: BBS1 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome type 1 209900
Publications for gene: BBS1 were set to
Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: BBS1 was added gene: BBS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: BBS1 was set to Unknown Phenotypes for gene: BBS1 were set to Ciliopathy genes associated with cystic kidney disease