Ophthalmological ciliopathies
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
2 reviews
Beth Hoskins (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).Created: 4 Aug 2016, 3:47 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert list
- Expert Review Green
- Phenotypes
-
- Bardet Biedl syndrome 12
- OMIM
- 610683
- Clinvar variants
- Variants in BBS12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Renal ciliopathies
- Cystic kidney disease
- DDG2P
- Skeletal ciliopathies
- Skeletal dysplasia
- Intellectual disability
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Severe early-onset obesity
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Retinal disorders
- Bardet Biedl syndrome
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
8 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BBS12 was added gene: BBS12 was added to Ophthalmological ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS12 were set to 17160889 Phenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12