Glaucoma (developmental)
Gene: BBS7
BBS7 (Bardet-Biedl syndrome 7)
EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 18 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome7; 615984
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome7, 615984
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 607590
- Clinvar variants
- Variants in BBS7
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Retinal disorders
- DDG2P
- Severe early-onset obesity
- Ductal plate malformation
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)BBS7 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory