This Panel is marked as Deleted
Renal ciliopathies and nephronophthisis_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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- None
- Panels with this gene
-
- Skeletal ciliopathies
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- Structural eye disease
- Severe early-onset obesity
- Cystic kidney disease
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ductal plate malformation
- Intellectual disability
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy 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 Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: BBS1 was set to Unknown