Ophthalmological ciliopathies
Gene: BBS7
BBS7 (Bardet-Biedl syndrome 7)
EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 18 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, 3:50 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 7
- OMIM
- 607590
- Clinvar variants
- Variants in BBS7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Skeletal dysplasia
- Structural eye disease
- Severe early-onset obesity
- Intellectual disability
- Ductal plate malformation
- Bardet Biedl syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy 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: BBS7 was added gene: BBS7 was added to Ophthalmological ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS7 were set to 12567324 Phenotypes for gene: BBS7 were set to Bardet Biedl syndrome 7