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Limb disorders v2.39 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
Limb disorders v1.74 BBS12 Eleanor Williams Classified gene: BBS12 as Green List (high evidence)
Limb disorders v1.74 BBS12 Eleanor Williams Gene: bbs12 has been classified as Green List (High Evidence).
Limb disorders v1.73 BBS12 Eleanor Williams Phenotypes for gene: BBS12 were changed from Polydactyly to Polydactyly; Bardet Biedl syndrome 12, 615989
Limb disorders v1.72 BBS12 Eleanor Williams Mode of inheritance for gene: BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v1.71 BBS10 Eleanor Williams Classified gene: BBS10 as Green List (high evidence)
Limb disorders v1.71 BBS10 Eleanor Williams Gene: bbs10 has been classified as Green List (High Evidence).
Limb disorders v1.70 BBS10 Eleanor Williams Phenotypes for gene: BBS10 were changed from Polydactyly to Polydactyly; Bardet Biedl syndrome 10, 615987
Limb disorders v1.69 BBS10 Eleanor Williams Mode of inheritance for gene: BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v1.68 BBS1 Eleanor Williams Classified gene: BBS1 as Green List (high evidence)
Limb disorders v1.68 BBS1 Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.
Limb disorders v1.68 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Limb disorders v1.67 BBS1 Eleanor Williams Phenotypes for gene: BBS1 were changed from Polydactyly; Bardet-Biedl syndrome 1209900 to Polydactyly; Bardet-Biedl syndrome 1 209900
Limb disorders v0.286 BBS12 Eleanor Williams Marked gene: BBS12 as ready
Limb disorders v0.286 BBS12 Eleanor Williams Gene: bbs12 has been removed from the panel.
Limb disorders v0.286 BBS12 Eleanor Williams Classified gene: BBS12 as No list
Limb disorders v0.286 BBS12 Eleanor Williams Gene: bbs12 has been removed from the panel.
Limb disorders v0.285 BBS10 Eleanor Williams Marked gene: BBS10 as ready
Limb disorders v0.285 BBS10 Eleanor Williams Gene: bbs10 has been removed from the panel.
Limb disorders v0.285 BBS10 Eleanor Williams Classified gene: BBS10 as No list
Limb disorders v0.285 BBS10 Eleanor Williams Gene: bbs10 has been removed from the panel.
Limb disorders v0.284 BBS1 Eleanor Williams Classified gene: BBS1 as No list
Limb disorders v0.284 BBS1 Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Limb disorders v0.284 BBS1 Eleanor Williams Gene: bbs1 has been removed from the panel.
Limb disorders v0.278 BBS1 Eleanor Williams Source Expert Review Removed was added to BBS1.
Rating Changed from Green List (high evidence) to No List (delete)
Limb disorders v0.278 BBS12 Eleanor Williams Source Expert Review Removed was added to BBS12.
Rating Changed from Red List (low evidence) to No List (delete)
Limb disorders v0.278 BBS10 Eleanor Williams Source Expert Review Removed was added to BBS10.
Rating Changed from Red List (low evidence) to No List (delete)
Limb disorders v0.241 BBS1 Eleanor Williams Marked gene: BBS1 as ready
Limb disorders v0.241 BBS1 Eleanor Williams Added comment: Comment when marking as ready: Marked as read after reviewing available evidence
Limb disorders v0.241 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Limb disorders v0.241 BBS1 Eleanor Williams commented on gene: BBS1: Note: is green on the Rare multisystem ciliopathy disorders panel.
Limb disorders v0.194 BBS1 Eleanor Williams Phenotypes for gene: BBS1 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 1209900
Limb disorders v0.193 BBS1 Eleanor Williams Publications for gene: BBS1 were set to
Limb disorders v0.192 BBS1 Eleanor Williams Added comment: Comment on mode of inheritance: Also reported as Digenic recessive in OMIM
Limb disorders v0.192 BBS1 Eleanor Williams Mode of inheritance for gene: BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.191 BBS1 Eleanor Williams Classified gene: BBS1 as Green List (high evidence)
Limb disorders v0.191 BBS1 Eleanor Williams Added comment: Comment on list classification: More than 3 cases/families reported of variants in this gene in individuals with Bardet-Biedl syndrome 1.
Limb disorders v0.191 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Limb disorders v0.190 BBS1 Eleanor Williams commented on gene: BBS1
Limb disorders BBS1 Ellen McDonagh Added gene to panel