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Limb disorders

Gene: BBS2

Green List (high evidence)

BBS2 (Bardet-Biedl syndrome 2)
EnsemblGeneIds (GRCh38): ENSG00000125124
EnsemblGeneIds (GRCh37): ENSG00000125124
OMIM: 606151, Gene2Phenotype
BBS2 is in 21 panels

1 review

Eleanor Williams (Genomics England Curator)

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.
Created: 25 Nov 2019, 5:30 p.m. | Last Modified: 25 Nov 2019, 5:30 p.m.
Panel Version: 1.77
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.
Created: 2 Dec 2018, 10:40 p.m.

History Filter Activity

25 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bbs2 has been classified as Green List (High Evidence).

25 Nov 2019, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: BBS2 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 2, 615981

25 Nov 2019, Gel status: 0

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BBS2 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Comment on list classification

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bbs2 has been removed from the panel.

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bbs2 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to BBS2. Rating Changed from Red List (low evidence) to No List (delete)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BBS2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BBS2 was created by Ellen McDonagh