Retinal disorders
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- Bardet-Biedl syndrome 9, 615986
- OMIM
- 607968
- Clinvar variants
- Variants in BBS9
- Penetrance
- Complete
- Panels with this gene
-
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Severe early-onset obesity
History Filter Activity
19 Nov 2019, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BBS9 were changed from Eye Disorders to Eye Disorders; Bardet-Biedl syndrome 9, 615986
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BBS9. Rating Changed from Green List (high evidence) to Green List (high evidence)
21 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BBS9 was changed to BIALLELIC, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BBS9 was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)BBS9 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green