07 Apr 2021
Skeletal dysplasia v2.87
BBS1
Sarah Leigh Phenotypes for gene: BBS1 were changed from Polydactyly; Bardet-Biedl syndrome 1 209900 to Polydactyly; Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
12 Dec 2019
Skeletal dysplasia v1.304
BBS12
Eleanor Williams Classified gene: BBS12 as Green List (high evidence)
12 Dec 2019
Skeletal dysplasia v1.304
BBS12
Eleanor Williams Gene: bbs12 has been classified as Green List (High Evidence).
12 Dec 2019
Skeletal dysplasia v1.303
BBS12
Eleanor Williams Phenotypes for gene: BBS12 were changed from to Polydactyly; Bardet Biedl syndrome 12, 615989
12 Dec 2019
Skeletal dysplasia v1.302
BBS12
Eleanor Williams Mode of inheritance for gene: BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
12 Dec 2019
Skeletal dysplasia v1.301
BBS10
Eleanor Williams Classified gene: BBS10 as Green List (high evidence)
12 Dec 2019
Skeletal dysplasia v1.301
BBS10
Eleanor Williams Gene: bbs10 has been classified as Green List (High Evidence).
12 Dec 2019
Skeletal dysplasia v1.300
BBS10
Eleanor Williams Phenotypes for gene: BBS10 were changed from to Polydactyly; Bardet Biedl syndrome 10, 615987
12 Dec 2019
Skeletal dysplasia v1.299
BBS10
Eleanor Williams Mode of inheritance for gene: BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
12 Dec 2019
Skeletal dysplasia v1.298
BBS1
Eleanor Williams Classified gene: BBS1 as Green List (high evidence)
12 Dec 2019
Skeletal dysplasia v1.298
BBS1
Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
12 Dec 2019
Skeletal dysplasia v1.298
BBS1
Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
12 Dec 2019
Skeletal dysplasia v1.297
BBS1
Eleanor Williams Phenotypes for gene: BBS1 were changed from to Polydactyly; Bardet-Biedl syndrome 1 209900
12 Dec 2019
Skeletal dysplasia v1.297
BBS1
Eleanor Williams Publications for gene: BBS1 were set to
12 Dec 2019
Skeletal dysplasia v1.296
BBS1
Eleanor Williams Mode of inheritance for gene: BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal