Monogenic hearing loss
Gene: BBS4
BBS4 (Bardet-Biedl syndrome 4)
EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 is in 21 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#615982:Bardet-Biedl syndrome 4[Obesity; Retinal degenerationRetinitis pigmentosaNight blindness; Impaired olfaction (in some patients); Dental abnormalities (in some patients); CryptorchidismHypogenitalismHypogonadism; Renal cystsRenal anomalies; PolydactylyBrachydactylySyndactyly; Polydactyly; Mental retardation (in some patients)]
Publications
Details
- Sources
-
- Expert
- OMIM
- 600374
- Clinvar variants
- Variants in BBS4
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
24 Jun 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BBS4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert