Limb disorders
Gene: BBS7EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 18 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, 9:54 p.m. | Last Modified: 25 Nov 2019, 9:54 p.m.
Panel Version: 1.86
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, 10:41 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Bardet-Biedl syndrome 7, 615984
- OMIM
- 607590
- Clinvar variants
- Variants in BBS7
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: bbs7 has been classified as Green List (High Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: BBS7 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 7, 615984
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: BBS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: bbs7 has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: bbs7 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to BBS7. Rating Changed from Red List (low evidence) to No List (delete)
Added New Source
Ellen McDonagh (Genomics England Curator)BBS7 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)BBS7 was created by Ellen McDonagh