Glaucoma (developmental)
Gene: BBS9
BBS9 (Bardet-Biedl syndrome 9)
EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 21 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 syndrome9; 615986
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 syndrome9, 615986
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 607968
- Clinvar variants
- Variants in BBS9
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal ciliopathies
- Renal ciliopathies
- Intellectual disability
- Ophthalmological ciliopathies
- Limb disorders
- Skeletal dysplasia
- Unexplained kidney failure in young people
- Ductal plate malformation
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Bardet Biedl syndrome
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary ciliary disorders
- Cystic kidney disease
- Retinal disorders
- Fetal anomalies
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)BBS9 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory