Rare multisystem ciliopathy disorders
Gene: BBS7EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 18 panels
2 reviews
Beth Hoskins (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).Created: 4 Aug 2016, 3:50 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
- Phenotypes
-
- Bardet‐Biedl syndrome 7
- OMIM
- 607590
- Clinvar variants
- Variants in BBS7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Skeletal dysplasia
- Structural eye disease
- Severe early-onset obesity
- Intellectual disability
- Ductal plate malformation
- Bardet Biedl syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)BBS7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BBS7 were set to Bardet‐Biedl syndrome 7
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BBS7 were set to 12567324
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)BBS7 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)BBS7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list