This Panel is marked as Deleted
Renal ciliopathies and nephronophthisis_KidGen_VCGS
Gene: BBS12
BBS12 (Bardet-Biedl syndrome 12)
EnsemblGeneIds (GRCh38): ENSG00000181004
EnsemblGeneIds (GRCh37): ENSG00000181004
OMIM: 610683, Gene2Phenotype
BBS12 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000181004
EnsemblGeneIds (GRCh37): ENSG00000181004
OMIM: 610683, Gene2Phenotype
BBS12 is in 20 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 610683
- Clinvar variants
- Variants in BBS12
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Skeletal ciliopathies
- Ophthalmological ciliopathies
- Retinal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Structural eye disease
- Intellectual disability
- Severe early-onset obesity
- Cystic kidney disease
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Limb disorders
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: BBS12 was added gene: BBS12 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: BBS12 was set to Unknown