This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
Gene: BBS1
BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Skeletal ciliopathies
- Retinal disorders
- Ophthalmological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Monogenic hearing loss
- Severe early-onset obesity
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: BBS1 was added gene: BBS1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green Mode of inheritance for gene: BBS1 was set to Unknown