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Unexplained young onset end-stage renal disease v1.16 BBS1 Sarah Leigh 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
Unexplained young onset end-stage renal disease v0.83 BBS12 Eleanor Williams Classified gene: BBS12 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.83 BBS12 Eleanor Williams Gene: bbs12 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.82 BBS12 Eleanor Williams Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.81 BBS12 Eleanor Williams Publications for gene: BBS12 were set to
Unexplained young onset end-stage renal disease v0.80 BBS12 Eleanor Williams Phenotypes for gene: BBS12 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 12 615989
Unexplained young onset end-stage renal disease v0.79 BBS10 Eleanor Williams Classified gene: BBS10 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.79 BBS10 Eleanor Williams Gene: bbs10 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.78 BBS10 Eleanor Williams Phenotypes for gene: BBS10 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 10 615987
Unexplained young onset end-stage renal disease v0.77 BBS10 Eleanor Williams Publications for gene: BBS10 were set to
Unexplained young onset end-stage renal disease v0.76 BBS10 Eleanor Williams Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.75 BBS1 Eleanor Williams Classified gene: BBS1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.75 BBS1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.75 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.74 BBS1 Eleanor Williams 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
Unexplained young onset end-stage renal disease v0.73 BBS1 Eleanor Williams Publications for gene: BBS1 were set to
Unexplained young onset end-stage renal disease v0.72 BBS1 Eleanor Williams Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.2 BBS12 Eleanor Williams reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS10 Eleanor Williams reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS1 Eleanor Williams reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 BBS12 Eleanor Williams gene: BBS12 was added
gene: BBS12 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS12 was set to Unknown
Phenotypes for gene: BBS12 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS10 Eleanor Williams gene: BBS10 was added
gene: BBS10 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS10 was set to Unknown
Phenotypes for gene: BBS10 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS1 Eleanor Williams 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