Structural eye disease
Gene: BBS1EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 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 syndrome1; 209900
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 syndrome1, 209900
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Bardet-Biedl syndrome1, 209900
- Eye Disorders
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- None
- Panels with this gene
-
- Skeletal ciliopathies
- Ophthalmological ciliopathies
- Intellectual disability
- Cystic kidney disease
- Structural eye disease
- Renal ciliopathies
- Monogenic hearing loss
- Fetal anomalies
- Severe early-onset obesity
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ductal plate malformation
- Limb disorders
- DDG2P
- Retinal disorders
- Glaucoma (developmental)
- Ataxia and cerebellar anomalies - narrow panel
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BBS1. Mode of inheritance for gene BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome1, 209900 for gene: BBS1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: BBS1 was added gene: BBS1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BBS1 was set to Phenotypes for gene: BBS1 were set to Eye Disorders